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Database: UniProt
Entry: SCN5A_HUMAN
LinkDB: SCN5A_HUMAN
Original site: SCN5A_HUMAN 
ID   SCN5A_HUMAN             Reviewed;        2016 AA.
AC   Q14524; A5H1P8; A6N922; A6N923; B2RTU0; E7ET19; E9PEF3; E9PEK2;
AC   E9PFW7; Q59H93; Q75RX9; Q75RY0; Q86UR3; Q8IZC9; Q96J69;
DT   15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT   25-NOV-2008, sequence version 2.
DT   25-OCT-2017, entry version 195.
DE   RecName: Full=Sodium channel protein type 5 subunit alpha;
DE   AltName: Full=HH1;
DE   AltName: Full=Sodium channel protein cardiac muscle subunit alpha;
DE   AltName: Full=Sodium channel protein type V subunit alpha;
DE   AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.5;
GN   Name=SCN5A;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR
RP   LOCATION, AND VARIANTS ARG-552 AND GLN-1027.
RC   TISSUE=Heart;
RX   PubMed=1309946; DOI=10.1073/pnas.89.2.554;
RA   Gellens M.E., George A.L. Jr., Chen L.Q., Chahine M., Horn R.,
RA   Barchi R.L., Kallen R.G.;
RT   "Primary structure and functional expression of the human cardiac
RT   tetrodotoxin-insensitive voltage-dependent sodium channel.";
RL   Proc. Natl. Acad. Sci. U.S.A. 89:554-558(1992).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, AND
RP   VARIANT ARG-552.
RC   TISSUE=Jejunal smooth muscle;
RX   PubMed=12358675; DOI=10.1046/j.1365-2982.2002.00348.x;
RA   Ou Y., Gibbons S.J., Miller S.M., Strege P.R., Rich A., Distad M.A.,
RA   Ackerman M.J., Rae J.L., Szurszewski J.H., Farrugia G.;
RT   "SCN5A is expressed in human jejunal circular smooth muscle cells.";
RL   Neurogastroenterol. Motil. 14:477-486(2002).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS ARG-558 AND
RP   TYR-1103.
RX   PubMed=14500339; DOI=10.1161/01.RES.0000096652.14509.96;
RA   Makielski J.C., Ye B., Valdivia C.R., Pagel M.D., Pu J., Tester D.J.,
RA   Ackerman M.J.;
RT   "A ubiquitous splice variant and a common polymorphism affect
RT   heterologous expression of recombinant human SCN5A heart sodium
RT   channels.";
RL   Circ. Res. 93:821-828(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ARG-558, AND
RP   CHARACTERIZATION OF VARIANT LQT3 LEU-1766.
RX   PubMed=12454206; DOI=10.1152/physiolgenomics.00117.2002;
RA   Ye B., Valdivia C.R., Ackerman M.J., Makielski J.C.;
RT   "A common human SCN5A polymorphism modifies expression of an
RT   arrhythmia causing mutation.";
RL   Physiol. Genomics 12:187-193(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), AND VARIANT THR-1498.
RX   PubMed=16115203; DOI=10.1111/j.1460-9568.2005.04280.x;
RA   Ou S.-W., Kameyama A., Hao L.-Y., Horiuchi M., Minobe E., Wang W.-Y.,
RA   Makita N., Kameyama M.;
RT   "Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are
RT   encoded by new variants of Nav1.5/SCN5A.";
RL   Eur. J. Neurosci. 22:793-801(2005).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 6), AND VARIANTS LEU-336
RP   AND GLN-1027.
RA   Wang J., Ou S.-W., Wang Y.-J., Zong Z.-H.;
RT   "Cloning, distribution and analysis of the new exon encoding Nav1.5
RT   channel in brain tissues.";
RL   Sheng Wu Hua Xue Yu Sheng Wu Wu Li Jin Zhan 34:255-259(2007).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG   NHLBI resequencing and genotyping service (RS&G);
RL   Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA   Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA   Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA   Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA   Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA   Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA   Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA   Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA   Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA   Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA   Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA   Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA   Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
RA   Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA   Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA   Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [9]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
RP   ARG-558.
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [10]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 422-2016 (ISOFORMS 3/6).
RC   TISSUE=Brain;
RA   Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA   Ohara O., Nagase T., Kikuno R.F.;
RL   Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [11]
RP   INTERACTION WITH NEDD4L, UBIQUITINATION, AND MUTAGENESIS OF TYR-1977
RP   AND VAL-1980.
RX   PubMed=15217910; DOI=10.1161/01.RES.0000136816.05109.89;
RA   van Bemmelen M.X., Rougier J.-S., Gavillet B., Apotheloz F.,
RA   Daidie D., Tateyama M., Rivolta I., Thomas M.A., Kass R.S., Staub O.,
RA   Abriel H.;
RT   "Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2
RT   mediated ubiquitination.";
RL   Circ. Res. 95:284-291(2004).
RN   [12]
RP   INTERACTION WITH NEDD4; NEDD4L AND WWP2, UBIQUITINATION, AND
RP   MUTAGENESIS OF PRO-1974; PRO-1975; SER-1976; TYR-1977; ASP-1978;
RP   SER-1979 AND VAL-1980.
RX   PubMed=15548568; DOI=10.1152/ajpcell.00460.2004;
RA   Rougier J.-S., van Bemmelen M.X., Bruce M.C., Jespersen T.,
RA   Gavillet B., Apotheloz F., Cordonier S., Staub O., Rotin D.,
RA   Abriel H.;
RT   "Molecular determinants of voltage-gated sodium channel regulation by
RT   the Nedd4/Nedd4-like proteins.";
RL   Am. J. Physiol. 288:C692-C701(2005).
RN   [13]
RP   MUTAGENESIS OF GLN-1476.
RX   PubMed=16054936; DOI=10.1016/S0140-6736(05)66786-4;
RA   Dichgans M., Freilinger T., Eckstein G., Babini E.,
RA   Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J.,
RA   van den Maagdenberg A.M.J.M., Pusch M., Strom T.M.;
RT   "Mutation in the neuronal voltage-gated sodium channel SCN1A in
RT   familial hemiplegic migraine.";
RL   Lancet 366:371-377(2005).
RN   [14]
RP   INTERACTION WITH GPD1L, AND PHOSPHORYLATION AT SER-1503 BY PKC.
RX   PubMed=19666841; DOI=10.1152/ajpheart.00513.2009;
RA   Valdivia C.R., Ueda K., Ackerman M.J., Makielski J.C.;
RT   "GPD1L links redox state to cardiac excitability by PKC-dependent
RT   phosphorylation of the sodium channel SCN5A.";
RL   Am. J. Physiol. 297:H1446-H1452(2009).
RN   [15]
RP   ALTERNATIVE SPLICING, AND TISSUE SPECIFICITY (ISOFORM 4).
RX   PubMed=19376164; DOI=10.1016/j.neures.2009.04.003;
RA   Wang J., Ou S.-W., Wang Y.-J., Kameyama M., Kameyama A., Zong Z.-H.;
RT   "Analysis of four novel variants of Nav1.5/SCN5A cloned from the
RT   brain.";
RL   Neurosci. Res. 64:339-347(2009).
RN   [16]
RP   REVIEW ON VARIANTS.
RX   PubMed=19027780; DOI=10.1016/j.pbiomolbio.2008.10.005;
RA   Zimmer T., Surber R.;
RT   "SCN5A channelopathies - An update on mutations and mechanisms.";
RL   Prog. Biophys. Mol. Biol. 98:120-136(2008).
RN   [17]
RP   ALTERNATIVE SPLICING.
RX   PubMed=20398673; DOI=10.1016/j.yjmcc.2010.04.004;
RA   Schroeter A., Walzik S., Blechschmidt S., Haufe V., Benndorf K.,
RA   Zimmer T.;
RT   "Structure and function of splice variants of the cardiac voltage-
RT   gated sodium channel Na(v)1.5.";
RL   J. Mol. Cell. Cardiol. 49:16-24(2010).
RN   [18]
RP   INTERACTION WITH FGF13.
RX   PubMed=21817159; DOI=10.1161/CIRCRESAHA.111.247957;
RA   Wang C., Hennessey J.A., Kirkton R.D., Wang C., Graham V.,
RA   Puranam R.S., Rosenberg P.B., Bursac N., Pitt G.S.;
RT   "Fibroblast growth factor homologous factor 13 regulates Na+ channels
RT   and conduction velocity in murine hearts.";
RL   Circ. Res. 109:775-782(2011).
RN   [19]
RP   METHYLATION AT ARG-513; ARG-526 AND ARG-680.
RX   PubMed=21726068; DOI=10.1021/pr200339n;
RA   Beltran-Alvarez P., Pagans S., Brugada R.;
RT   "The cardiac sodium channel is post-translationally modified by
RT   arginine methylation.";
RL   J. Proteome Res. 10:3712-3719(2011).
RN   [20]
RP   PHOSPHORYLATION AT SER-36; THR-38; SER-457; SER-460; SER-483; SER-484;
RP   SER-497; SER-510; SER-571; SER-664 AND SER-667.
RX   PubMed=23092124; DOI=10.1021/pr300702c;
RA   Marionneau C., Lichti C.F., Lindenbaum P., Charpentier F.,
RA   Nerbonne J.M., Townsend R.R., Merot J.;
RT   "Mass spectrometry-based identification of native cardiac Nav1.5
RT   channel alpha subunit phosphorylation sites.";
RL   J. Proteome Res. 11:5994-6007(2012).
RN   [21]
RP   MUTAGENESIS OF ASP-1610.
RX   PubMed=24898004; DOI=10.1124/mol.114.092338;
RA   Xiao Y., Blumenthal K., Cummins T.R.;
RT   "Gating-pore currents demonstrate selective and specific modulation of
RT   individual sodium channel voltage-sensors by biological toxins.";
RL   Mol. Pharmacol. 86:159-167(2014).
RN   [22]
RP   MUTAGENESIS OF ASP-1610 AND LYS-1614, AND SUBUNIT.
RX   PubMed=26721415; DOI=10.1016/j.toxicon.2015.12.009;
RA   Tao H., Chen X., Lu M., Wu Y., Deng M., Zeng X., Liu Z., Liang S.;
RT   "Molecular determinant for the tarantula toxin Jingzhaotoxin-I slowing
RT   the fast inactivation of voltage-gated sodium channels.";
RL   Toxicon 111:13-21(2016).
RN   [23]
RP   STRUCTURE BY NMR OF 1773-1865, FUNCTION, SUBCELLULAR LOCATION,
RP   RESPONSE TO CALCIUM, AND MUTAGENESIS OF 1802-ASP--GLU-1804.
RX   PubMed=19074138; DOI=10.1074/jbc.M807747200;
RA   Chagot B., Potet F., Balser J.R., Chazin W.J.;
RT   "Solution NMR structure of the C-terminal EF-hand domain of human
RT   cardiac sodium channel NaV1.5.";
RL   J. Biol. Chem. 284:6436-6445(2009).
RN   [24]
RP   STRUCTURE BY NMR OF 1901-1927 IN COMPLEX WITH CALM, AND INTERACTION
RP   WITH CALM.
RX   PubMed=21167176; DOI=10.1016/j.jmb.2010.11.046;
RA   Chagot B., Chazin W.J.;
RT   "Solution NMR structure of Apo-calmodulin in complex with the IQ motif
RT   of human cardiac sodium channel NaV1.5.";
RL   J. Mol. Biol. 406:106-119(2011).
RN   [25]
RP   X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 1773-1940 IN COMPLEX WITH
RP   FGF13 AND CALMODULIN.
RX   PubMed=22705208; DOI=10.1016/j.str.2012.05.001;
RA   Wang C., Chung B.C., Yan H., Lee S.Y., Pitt G.S.;
RT   "Crystal structure of the ternary complex of a NaV C-terminal domain,
RT   a fibroblast growth factor homologous factor, and calmodulin.";
RL   Structure 20:1167-1176(2012).
RN   [26]
RP   VARIANTS LQT3.
RX   PubMed=7889574; DOI=10.1016/0092-8674(95)90359-3;
RA   Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L.,
RA   Moss A.J., Towbin J.A., Keating M.T.;
RT   "SCN5A mutations associated with an inherited cardiac arrhythmia, long
RT   QT syndrome.";
RL   Cell 80:805-811(1995).
RN   [27]
RP   VARIANTS LQT3.
RX   PubMed=8541846; DOI=10.1093/hmg/4.9.1603;
RA   Wang Q., Shen J., Li Z., Timothy K.W., Vincent G.M., Priori S.G.,
RA   Schwartz P.J., Keating M.T.;
RT   "Cardiac sodium channel mutations in patients with long QT syndrome,
RT   an inherited cardiac arrhythmia.";
RL   Hum. Mol. Genet. 4:1603-1607(1995).
RN   [28]
RP   VARIANT LQT3 1505-LYS--GLN-1507 DEL.
RX   PubMed=7651517; DOI=10.1038/376683a0;
RA   Bennett P.B., Yazawa K., Makita N., George A.L. Jr.;
RT   "Molecular mechanism for an inherited cardiac arrhythmia.";
RL   Nature 376:683-685(1995).
RN   [29]
RP   VARIANT LQT3 GLY-1790.
RX   PubMed=9686753; DOI=10.1161/01.RES.83.2.141;
RA   An R.H., Wang X.L., Kerem B., Benhorin J., Medina A., Goldmit M.,
RA   Kass R.S.;
RT   "Novel LQT-3 mutation affects Na+ channel activity through
RT   interactions between alpha- and beta1-subunits.";
RL   Circ. Res. 83:141-146(1998).
RN   [30]
RP   VARIANT LQT3 GLN-1623.
RX   PubMed=9506831; DOI=10.1016/S0014-5793(98)00033-7;
RA   Makita N., Shirai N., Nagashima M., Matsuoka R., Yamada Y., Tohse N.,
RA   Kitabatake A.;
RT   "A de novo missense mutation of human cardiac Na(+) channel exhibiting
RT   novel molecular mechanisms of long QT syndrome.";
RL   FEBS Lett. 423:5-9(1998).
RN   [31]
RP   VARIANT LQT3 GLY-1839.
RX   PubMed=10627139;
RX   DOI=10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z;
RA   Benhorin J., Goldmit M., Maccluer J.W., Blangero J., Goffen R.,
RA   Leibovitch A., Rahat A., Wang Q., Medina A., Towbin J.A., Kerem B.;
RT   "Identification of a new SCN5A mutation, D1840G, associated with the
RT   long QT syndrome.";
RL   Hum. Mutat. 12:72-72(1998).
RN   [32]
RP   VARIANT LQT3 GLN-1623.
RA   Yamagishi H., Furutani M., Kamisago M., Morikawa Y., Kojima Y.,
RA   Hino Y., Furutani Y., Kimura M., Imamura S., Takao A., Momma K.,
RA   Matsuoka R.;
RT   "A De Novo missense mutation (R1623Q) of the SCN5A gene in a Japanese
RT   girl with sporadic long QT syndrome.";
RL   Hum. Mutat. 12:481-481(1998).
RN   [33]
RP   VARIANTS BRGDA1 TRP-1232 AND MET-1620.
RX   PubMed=9521325; DOI=10.1038/32675;
RA   Chen Q., Kirsch G.E., Zhang D., Brugada R., Brugada J., Brugada P.,
RA   Potenza D., Moya A., Borggrefe M., Breithardt G., Ortiz-Lopez R.,
RA   Wang Z., Antzelevitch C., O'Brien R.E., Schulze-Bahr E., Keating M.T.,
RA   Towbin J.A., Wang Q.;
RT   "Genetic basis and molecular mechanism for idiopathic ventricular
RT   fibrillation.";
RL   Nature 392:293-296(1998).
RN   [34]
RP   VARIANTS LQT3 MET-1304 AND MET-1645, AND VARIANT ASN-1500.
RX   PubMed=10508990;
RX   DOI=10.1002/(SICI)1096-8628(19991029)86:5<470::AID-AJMG13>3.0.CO;2-Y;
RA   Wattanasirichaigoon D., Vesely M.R., Duggal P., Levine J.C.,
RA   Blume E.D., Wolff G.S., Edwards S.B., Beggs A.H.;
RT   "Sodium channel abnormalities are infrequent in patients with long QT
RT   syndrome: identification of two novel SCN5A mutations.";
RL   Am. J. Med. Genet. 86:470-476(1999).
RN   [35]
RP   CHARACTERIZATION OF VARIANTS BRGDA1 TRP-1512 AND THR-1924.
RX   PubMed=10690282; DOI=10.1016/S0008-6363(99)00350-8;
RA   Rook M.B., Bezzina Alshinawi C., Groenewegen W.A., van Gelder I.C.,
RA   van Ginneken A.C.G., Jongsma H.J., Mannens M.M.A.M., Wilde A.A.M.;
RT   "Human SCN5A gene mutations alter cardiac sodium channel kinetics and
RT   are associated with the Brugada syndrome.";
RL   Cardiovasc. Res. 44:507-517(1999).
RN   [36]
RP   VARIANT LQT3 LYS-1784.
RX   PubMed=10377081; DOI=10.1161/01.CIR.99.24.3165;
RA   Wei J., Wang D.W., Alings M., Fish F., Wathen M., Roden D.M.,
RA   George A.L. Jr.;
RT   "Congenital long-QT syndrome caused by a novel mutation in a conserved
RT   acidic domain of the cardiac Na+ channel.";
RL   Circulation 99:3165-3171(1999).
RN   [37]
RP   CHARACTERIZATION OF VARIANT BRGDA1 MET-1620.
RX   PubMed=10532948; DOI=10.1161/01.RES.85.9.803;
RA   Dumaine R., Towbin J.A., Brugada P., Vatta M., Nesterenko D.V.,
RA   Nesterenko V.V., Brugada J., Brugada R., Antzelevitch C.;
RT   "Ionic mechanisms responsible for the electrocardiographic phenotype
RT   of the Brugada syndrome are temperature dependent.";
RL   Circ. Res. 85:803-809(1999).
RN   [38]
RP   CHARACTERIZATION OF VARIANT LQT3/BRGDA1 ASP-1795 INS.
RX   PubMed=10590249; DOI=10.1161/01.RES.85.12.1206;
RA   Bezzina C.R., Veldkamp M.W., van Den Berg M.P., Postma A.V.,
RA   Rook M.B., Viersma J.-W., van Langen I.M., Tan-Sindhunata G.,
RA   Bink-Boelkens M.T.E., van Der Hout A.H., Mannens M.M.A.M.,
RA   Wilde A.A.M.;
RT   "A single Na(+) channel mutation causing both long-QT and Brugada
RT   syndromes.";
RL   Circ. Res. 85:1206-1213(1999).
RN   [39]
RP   DISEASE.
RX   PubMed=10471492; DOI=10.1038/12618;
RA   Schott J.-J., Alshinawi C., Kyndt F., Probst V., Hoorntje T.M.,
RA   Hulsbeek M., Wilde A.A.M., Escande D., Mannens M.M.A.M., Le Marec H.;
RT   "Cardiac conduction defects associate with mutations in SCN5A.";
RL   Nat. Genet. 23:20-21(1999).
RN   [40]
RP   CHARACTERIZATION OF VARIANT BRGDA1 MET-1620.
RX   PubMed=10618304; DOI=10.1161/01.CIR.101.1.54;
RA   Makita N., Shirai N., Wang D.W., Sasaki K., George A.L. Jr., Kanno M.,
RA   Kitabatake A.;
RT   "Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated
RT   by beta(1)-subunit.";
RL   Circulation 101:54-60(2000).
RN   [41]
RP   VARIANTS LQT3 ASN-1114; VAL-1501; LEU-1623 AND HIS-1644, AND VARIANT
RP   ASN-1787.
RX   PubMed=10973849; DOI=10.1161/01.CIR.102.10.1178;
RA   Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G.,
RA   Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M.,
RA   Keating M.T.;
RT   "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A,
RT   KCNE1, and KCNE2.";
RL   Circulation 102:1178-1185(2000).
RN   [42]
RP   VARIANT VF1 LEU-1710.
RX   PubMed=10940383; DOI=10.1016/S0014-5793(00)01875-5;
RA   Akai J., Makita N., Sakurada H., Shirai N., Ueda K., Kitabatake A.,
RA   Nakazawa K., Kimura A., Hiraoka M.;
RT   "A novel SCN5A mutation associated with idiopathic ventricular
RT   fibrillation without typical ECG findings of Brugada syndrome.";
RL   FEBS Lett. 479:29-34(2000).
RN   [43]
RP   VARIANT LQT3 ASN-941.
RX   PubMed=10911008; DOI=10.1056/NEJM200007273430405;
RA   Schwartz P.J., Priori S.G., Dumaine R., Napolitano C.,
RA   Antzelevitch C., Stramba-Badiale M., Richard T.A., Berti M.R.,
RA   Bloise R.;
RT   "A molecular link between the sudden infant death syndrome and the
RT   long-QT syndrome.";
RL   N. Engl. J. Med. 343:262-267(2000).
RN   [44]
RP   VARIANT LQT3 LYS-1295, AND CHARACTERIZATION OF VARIANT LQT3 LYS-1295.
RX   PubMed=11304498; DOI=10.1161/hh0701.089668;
RA   Abriel H., Cabo C., Wehrens X.H., Rivolta I., Motoike H.K., Memmi M.,
RA   Napolitano C., Priori S.G., Kass R.S.;
RT   "Novel arrhythmogenic mechanism revealed by a long-QT syndrome
RT   mutation in the cardiac Na(+) channel.";
RL   Circ. Res. 88:740-745(2001).
RN   [45]
RP   CHARACTERIZATION OF VARIANT LQT3 CYS-1795, AND CHARACTERIZATION OF
RP   VARIANT BRGDA1 HIS-1795.
RX   PubMed=11410597; DOI=10.1074/jbc.M104471200;
RA   Rivolta I., Abriel H., Tateyama M., Liu H., Memmi M., Vardas P.,
RA   Napolitano C., Priori S.G., Kass R.S.;
RT   "Inherited Brugada and long QT-3 syndrome mutations of a single
RT   residue of the cardiac sodium channel confer distinct channel and
RT   clinical phenotypes.";
RL   J. Biol. Chem. 276:30623-30630(2001).
RN   [46]
RP   VARIANT SSS1/BRGDA1 ARG-1408.
RX   PubMed=11748104; DOI=10.1161/hc5001.100834;
RA   Kyndt F., Probst V., Potet F., Demolombe S., Chevallier J.-C.,
RA   Baro I., Moisan J.-P., Boisseau P., Schott J.-J., Escande D.,
RA   Le Marec H.;
RT   "Novel SCN5A mutation leading either to isolated cardiac conduction
RT   defect or Brugada syndrome in a large French family.";
RL   Circulation 104:3081-3086(2001).
RN   [47]
RP   CHARACTERIZATION OF VARIANTS LQT3 SER-997 AND HIS-1826.
RX   PubMed=11710892; DOI=10.1001/jama.286.18.2264;
RA   Ackerman M.J., Siu B.L., Sturner W.Q., Tester D.J., Valdivia C.R.,
RA   Makielski J.C., Towbin J.A.;
RT   "Postmortem molecular analysis of SCN5A defects in sudden infant death
RT   syndrome.";
RL   JAMA 286:2264-2269(2001).
RN   [48]
RP   CHARACTERIZATION OF VARIANT PFHB1A CYS-514.
RX   PubMed=11234013; DOI=10.1038/35059090;
RA   Tan H.L., Bink-Boelkens M.T.E., Bezzina C.R., Viswanathan P.C.,
RA   Beaufort-Krol G.C.M., van Tintelen P.J., van den Berg M.P.,
RA   Wilde A.A.M., Balser J.R.;
RT   "A sodium-channel mutation causes isolated cardiac conduction
RT   disease.";
RL   Nature 409:1043-1047(2001).
RN   [49]
RP   VARIANTS BRGDA1 LYS-161; CYS-367; LYS-369; ARG-752; LYS-1225;
RP   VAL-1319; ILE-1382; LEU-1405; ARG-1406; LYS-1479 DEL; SER-1502;
RP   TRP-1512; GLU-1743 AND THR-1924.
RX   PubMed=12106943; DOI=10.1016/S0735-1097(02)01962-9;
RA   Smits J.P.P., Eckardt L., Probst V., Bezzina C.R., Schott J.-J.,
RA   Remme C.A., Haverkamp W., Breithardt G., Escande D., Schulze-Bahr E.,
RA   LeMarec H., Wilde A.A.M.;
RT   "Genotype-phenotype relationship in Brugada syndrome:
RT   electrocardiographic features differentiate SCN5A-related patients
RT   from non-SCN5A-related patients.";
RL   J. Am. Coll. Cardiol. 40:350-356(2002).
RN   [50]
RP   CHARACTERIZATION OF VARIANTS PFHB1A SER-298 AND ASN-1595.
RX   PubMed=11804990; DOI=10.1161/hc0302.102592;
RA   Wang D.W., Viswanathan P.C., Balser J.R., George A.L. Jr.,
RA   Benson D.W.;
RT   "Clinical, genetic and biophysical characterisation of SCN5A mutations
RT   associated with atrioventricular conduction block.";
RL   Circulation 105:341-346(2002).
RN   [51]
RP   MODELING OF VARIANT LQT3/BRGDA1 ASP-1795 INS.
RX   PubMed=11889015; DOI=10.1161/hc1002.105183;
RA   Clancy C.E., Rudy Y.;
RT   "Na(+) channel mutation that causes both Brugada and long-QT syndrome
RT   phenotypes: a simulation study of mechanism.";
RL   Circulation 105:1208-1213(2002).
RN   [52]
RP   VARIANTS BRGDA1 HIS-27; VAL-226; VAL-230; HIS-282; MET-294; SER-319;
RP   PHE-393 DEL; GLN-567; PRO-681; GLU-735; LEU-851; ILE-892; SER-896;
RP   LEU-910; CYS-965; LYS-1053; ASN-1236; GLN-1240; SER-1293; LYS-1500
RP   DEL; ARG-1740; LYS-1784; HIS-1795 AND LEU-1951.
RX   PubMed=11901046; DOI=10.1161/hc1102.105288;
RA   Priori S.G., Napolitano C., Gasparini M., Pappone C., Della Bella P.,
RA   Giordano U., Bloise R., Giustetto C., De Nardis R., Grillo M.,
RA   Ronchetti E., Faggiano G., Nastoli J.;
RT   "Natural history of Brugada syndrome: insights for risk stratification
RT   and management.";
RL   Circulation 105:1342-1347(2002).
RN   [53]
RP   VARIANTS LQT3 GLU-615; PHE-619 AND LEU-1250, AND VARIANTS CYS-34 AND
RP   ARG-558.
RX   PubMed=11997281; DOI=10.1161/01.CIR.0000014448.19052.4C;
RA   Yang P., Kanki H., Drolet B., Yang T., Wei J., Viswanathan P.C.,
RA   Hohnloser S.H., Shimizu W., Schwartz P.J., Stanton M., Murray K.T.,
RA   Norris K., George A.L. Jr., Roden D.M.;
RT   "Allelic variants in long-QT disease genes in patients with drug-
RT   associated torsades de pointes.";
RL   Circulation 105:1943-1948(2002).
RN   [54]
RP   CHARACTERIZATION OF VARIANTS BRGDA1 HIS-367; VAL-735 AND GLN-1193.
RX   PubMed=11823453; DOI=10.1093/hmg/11.3.337;
RA   Vatta M., Dumaine R., Varghese G., Richard T.A., Shimizu W.,
RA   Aihara N., Nademanee K., Brugada R., Brugada J., Veerakul G., Li H.,
RA   Bowles N.E., Brugada P., Antzelevitch C., Towbin J.A.;
RT   "Genetic and biophysical basis of sudden unexplained nocturnal death
RT   syndrome (SUNDS), a disease allelic to Brugada syndrome.";
RL   Hum. Mol. Genet. 11:337-345(2002).
RN   [55]
RP   VARIANT TYR-1103.
RX   PubMed=12471205; DOI=10.1136/jmg.39.12.913;
RA   Chen S., Chung M.K., Martin D., Rozich R., Tchou P.J., Wang Q.;
RT   "SNP S1103Y in the cardiac sodium channel gene SCN5A is associated
RT   with cardiac arrhythmias and sudden death in a white family.";
RL   J. Med. Genet. 39:913-915(2002).
RN   [56]
RP   VARIANTS BRGDA1 GLU-126 AND VAL-351, CHARACTERIZATION OF VARIANT
RP   BRGDA1 VAL-351, AND VARIANT ARG-558.
RX   PubMed=12051963; DOI=10.1016/S1096-7192(02)00006-9;
RA   Vatta M., Dumaine R., Antzelevitch C., Brugada R., Li H., Bowles N.E.,
RA   Nademanee K., Brugada J., Brugada P., Towbin J.A.;
RT   "Novel mutations in domain I of SCN5A cause Brugada syndrome.";
RL   Mol. Genet. Metab. 75:317-324(2002).
RN   [57]
RP   VARIANT LQT3 VAL-1768, AND CHARACTERIZATION OF VARIANT LQT3 VAL-1768.
RX   PubMed=12209021; DOI=10.1152/physiolgenomics.00039.2002;
RA   Rivolta I., Clancy C.E., Tateyama M., Liu H., Priori S.G., Kass R.S.;
RT   "A novel SCN5A mutation associated with long QT-3: altered
RT   inactivation kinetics and channel dysfunction.";
RL   Physiol. Genomics 10:191-197(2002).
RN   [58]
RP   VARIANT TYR-1103.
RX   PubMed=12193783; DOI=10.1126/science.1073569;
RA   Splawski I., Timothy K.W., Tateyama M., Clancy C.E., Malhotra A.,
RA   Beggs A.H., Cappuccio F.P., Sagnella G.A., Kass R.S., Keating M.T.;
RT   "Variant of SCN5A sodium channel implicated in risk of cardiac
RT   arrhythmia.";
RL   Science 297:1333-1336(2002).
RN   [59]
RP   VARIANT ATRST1 ASN-1275.
RX   PubMed=12522116; DOI=10.1161/01.RES.0000050585.07097.D7;
RA   Groenewegen W.A., Firouzi M., Bezzina C.R., Vliex S., van Langen I.M.,
RA   Sandkuijl L., Smits J.P., Hulsbeek M., Rook M.B., Jongsma H.J.,
RA   Wilde A.A.M.;
RT   "A cardiac sodium channel mutation cosegregates with a rare connexin40
RT   genotype in familial atrial standstill.";
RL   Circ. Res. 92:14-22(2003).
RN   [60]
RP   VARIANT PFHB1A TRP-225.
RX   PubMed=12574143; DOI=10.1161/01.RES.0000052672.97759.36;
RA   Bezzina C.R., Rook M.B., Groenewegen W.A., Herfst L.J.,
RA   van der Wal A.C., Lam J., Jongsma H.J., Wilde A.A.M., Mannens M.M.;
RT   "Compound heterozygosity for mutations (W156X and R225W) in SCN5A
RT   associated with severe cardiac conduction disturbances and
RT   degenerative changes in the conduction system.";
RL   Circ. Res. 92:159-168(2003).
RN   [61]
RP   VARIANT LQT3 PHE-619.
RX   PubMed=12673799; DOI=10.1002/humu.9136;
RA   Wehrens X.H., Rossenbacker T., Jongbloed R.J., Gewillig M.,
RA   Heidbuchel H., Doevendans P.A., Vos M.A., Wellens H.J., Kass R.S.;
RT   "A novel mutation L619F in the cardiac Na+ channel SCN5A associated
RT   with long-QT syndrome (LQT3): a role for the I-II linker in
RT   inactivation gating.";
RL   Hum. Mutat. 21:552-552(2003).
RN   [62]
RP   VARIANT PFHB1A ILE-512, CHARACTERIZATION OF VARIANT PFHB1A ILE-512,
RP   VARIANT ARG-558, AND CHARACTERIZATION OF VARIANT ARG-558.
RX   PubMed=12569159; DOI=10.1172/JCI200316879;
RA   Viswanathan P.C., Benson D.W., Balser J.R.;
RT   "A common SCN5A polymorphism modulates the biophysical effects of an
RT   SCN5A mutation.";
RL   J. Clin. Invest. 111:341-346(2003).
RN   [63]
RP   VARIANTS SSS1 ILE-220; LEU-1298 AND ARG-1408.
RX   PubMed=14523039; DOI=10.1172/JCI200318062;
RA   Benson D.W., Wang D.W., Dyment M., Knilans T.K., Fish F.A.,
RA   Strieper M.J., Rhodes T.H., George A.L. Jr.;
RT   "Congenital sick sinus syndrome caused by recessive mutations in the
RT   cardiac sodium channel gene (SCN5A).";
RL   J. Clin. Invest. 112:1019-1028(2003).
RN   [64]
RP   VARIANT BRGDA1 ARG-1743, AND CHARACTERIZATION OF VARIANT BRGDA1
RP   ARG-1743.
RX   PubMed=15023552; DOI=10.1016/j.cardiores.2004.01.022;
RA   Valdivia C.R., Tester D.J., Rok B.A., Porter C.B., Munger T.M.,
RA   Jahangir A., Makielski J.C., Ackerman M.J.;
RT   "A trafficking defective, Brugada syndrome-causing SCN5A mutation
RT   rescued by drugs.";
RL   Cardiovasc. Res. 62:53-62(2004).
RN   [65]
RP   VARIANT CMD1E ASN-1275.
RX   PubMed=15466643; DOI=10.1161/01.CIR.0000144458.58660.BB;
RG   The familial cardiomyopathy registry research group;
RA   McNair W.P., Ku L., Taylor M.R.G., Fain P.R., Dao D., Wolfel E.,
RA   Mestroni L.;
RT   "SCN5A mutation associated with dilated cardiomyopathy, conduction
RT   disorder, and arrhythmia.";
RL   Circulation 110:2163-2167(2004).
RN   [66]
RP   VARIANT BRGDA1 SER-1262.
RX   PubMed=15338453; DOI=10.1007/s10038-004-0182-z;
RA   Shin D.-J., Jang Y., Park H.-Y., Lee J.E., Yang K., Kim E., Bae Y.,
RA   Kim J., Kim J., Kim S.S., Lee M.H., Chahine M., Yoon S.K.;
RT   "Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans
RT   with Brugada syndrome.";
RL   J. Hum. Genet. 49:573-578(2004).
RN   [67]
RP   VARIANT BRGDA1 LYS-1053, AND CHARACTERIZATION OF VARIANT BRGDA1
RP   LYS-1053.
RX   PubMed=15579534; DOI=10.1073/pnas.0403711101;
RA   Mohler P.J., Rivolta I., Napolitano C., LeMaillet G., Lambert S.,
RA   Priori S.G., Bennett V.;
RT   "Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to
RT   ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:17533-17538(2004).
RN   [68]
RP   VARIANT BRGDA1 GLY-1714, AND CHARACTERIZATION OF VARIANT BRGDA1
RP   GLY-1714.
RX   PubMed=16266370; DOI=10.1111/j.1365-201X.2005.01496.x;
RA   Amin A.S., Verkerk A.O., Bhuiyan Z.A., Wilde A.A.M., Tan H.L.;
RT   "Novel Brugada syndrome-causing mutation in ion-conducting pore of
RT   cardiac Na+ channel does not affect ion selectivity properties.";
RL   Acta Physiol. Scand. 185:291-301(2005).
RN   [69]
RP   VARIANTS BRGDA1 ARG-1527 AND PRO-1569.
RX   PubMed=15851320; DOI=10.1016/j.hrthm.2004.11.022;
RA   Yokoi H., Makita N., Sasaki K., Takagi Y., Okumura Y., Nishino T.,
RA   Makiyama T., Kitabatake A., Horie M., Watanabe I., Tsutsui H.;
RT   "Double SCN5A mutation underlying asymptomatic Brugada syndrome.";
RL   Heart Rhythm 2:285-292(2005).
RN   [70]
RP   VARIANTS LQT3 GLU-413; THR-413; GLU-573; ARG-579; HIS-689; PRO-1626;
RP   CYS-1644; VAL-1660; CYS-1767; GLY-1790 AND HIS-1913, AND VARIANTS
RP   THR-1498 AND ASN-1787.
RX   PubMed=16414944; DOI=10.1001/jama.294.23.2975;
RA   Napolitano C., Priori S.G., Schwartz P.J., Bloise R., Ronchetti E.,
RA   Nastoli J., Bottelli G., Cerrone M., Leonardi S.;
RT   "Genetic testing in the long QT syndrome: development and validation
RT   of an efficient approach to genotyping in clinical practice.";
RL   JAMA 294:2975-2980(2005).
RN   [71]
RP   VARIANTS LQT3 LEU-125; LYS-245; GLN-404; LYS-406; MET-411; LYS-462;
RP   ASP-572; GLU-615; LEU-637; LEU-648; CYS-971; MET-1069; LYS-1225;
RP   LYS-1231; SER-1325; TYR-1458; GLU-1481; 1505-LYS--GLN-1507 DEL;
RP   LEU-1623; HIS-1644; ILE-1667; MET-1763; LEU-1766; MET-1777; MET-1779;
RP   LYS-1784; CYS-1795; ARG-1909 AND SER-1949, AND VARIANTS TRP-18;
RP   PHE-618 AND GLN-1958.
RX   PubMed=15840476; DOI=10.1016/j.hrthm.2005.01.020;
RA   Tester D.J., Will M.L., Haglund C.M., Ackerman M.J.;
RT   "Compendium of cardiac channel mutations in 541 consecutive unrelated
RT   patients referred for long QT syndrome genetic testing.";
RL   Heart Rhythm 2:507-517(2005).
RN   [72]
RP   VARIANTS BRGDA1 ILE-187 AND ASN-356, AND CHARACTERIZATION OF VARIANTS
RP   BRGDA1 ILE-187 AND ASN-356.
RX   PubMed=16325048; DOI=10.1016/j.jacc.2005.08.043;
RA   Makiyama T., Akao M., Tsuji K., Doi T., Ohno S., Takenaka K.,
RA   Kobori A., Ninomiya T., Yoshida H., Takano M., Makita N.,
RA   Yanagisawa F., Higashi Y., Takeyama Y., Kita T., Horie M.;
RT   "High risk for bradyarrhythmic complications in patients with Brugada
RT   syndrome caused by SCN5A gene mutations.";
RL   J. Am. Coll. Cardiol. 46:2100-2106(2005).
RN   [73]
RP   VARIANT BRGDA1 SER-1344, AND VARIANTS ARG-552 AND GLN-1027.
RX   PubMed=16616735; DOI=10.1016/j.cardiores.2006.02.030;
RA   Keller D.I., Huang H., Zhao J., Frank R., Suarez V., Delacretaz E.,
RA   Brink M., Osswald S., Schwick N., Chahine M.;
RT   "A novel SCN5A mutation, F1344S, identified in a patient with Brugada
RT   syndrome and fever-induced ventricular fibrillation.";
RL   Cardiovasc. Res. 70:521-529(2006).
RN   [74]
RP   VARIANTS BRGDA1 LEU-336 AND VAL-1660, AND CHARACTERIZATION OF VARIANTS
RP   BRGDA1 LEU-336 AND VAL-1660.
RX   PubMed=17075016; DOI=10.1161/CIRCULATIONAHA.106.627489;
RA   Cordeiro J.M., Barajas-Martinez H., Hong K., Burashnikov E.,
RA   Pfeiffer R., Orsino A.M., Wu Y.S., Hu D., Brugada J., Brugada P.,
RA   Antzelevitch C., Dumaine R., Brugada R.;
RT   "Compound heterozygous mutations P336L and I1660V in the human cardiac
RT   sodium channel associated with the Brugada syndrome.";
RL   Circulation 114:2026-2033(2006).
RN   [75]
RP   VARIANTS LQT3 VAL-9; GLN-225; ARG-639; TYR-1333; TRP-1609 AND
RP   ASN-1819.
RX   PubMed=16922724; DOI=10.1111/j.1399-0004.2006.00671.x;
RA   Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P.,
RA   Kugener B., Fayol L., Gonzalez Armengod C., Oddou B., Chanavat V.,
RA   Froidefond E., Perraudin R., Rousson R., Rodriguez-Lafrasse C.;
RT   "Spectrum of pathogenic mutations and associated polymorphisms in a
RT   cohort of 44 unrelated patients with long QT syndrome.";
RL   Clin. Genet. 70:214-227(2006).
RN   [76]
RP   VARIANTS BRGDA1 ILE-95; PHE-1617 DEL AND VAL-1649.
RX   PubMed=17081365;
RA   Liang P., Liu W.L., Hu D.Y., Li C.L., Tao W.H., Li L.;
RT   "Novel SCN5A gene mutations associated with Brugada syndrome: V95I,
RT   A1649V and delF1617.";
RL   Zhonghua Xin Xue Guan Bing Za Zhi 34:616-619(2006).
RN   [77]
RP   VARIANT LQT3 LEU-1904, AND CHARACTERIZATION OF VARIANT LQT3 LEU-1904.
RX   PubMed=18708744; DOI=10.4161/chan.4956;
RA   Bankston J.R., Sampson K.J., Kateriya S., Glaaser I.W., Malito D.L.,
RA   Chung W.K., Kass R.S.;
RT   "A novel LQT-3 mutation disrupts an inactivation gate complex with
RT   distinct rate-dependent phenotypic consequences.";
RL   Channels 1:273-280(2007).
RN   [78]
RP   VARIANT BRGDA1 ILE-353.
RX   PubMed=17198989; DOI=10.1016/j.hrthm.2006.09.031;
RA   Pfahnl A.E., Viswanathan P.C., Weiss R., Shang L.L., Sanyal S.,
RA   Shusterman V., Kornblit C., London B., Dudley S.C. Jr.;
RT   "A sodium channel pore mutation causing Brugada syndrome.";
RL   Heart Rhythm 4:46-53(2007).
RN   [79]
RP   VARIANT LQT3 CYS-1473.
RX   PubMed=18060054; DOI=10.1371/journal.pone.0001258;
RA   Bankston J.R., Yue M., Chung W., Spyres M., Pass R.H., Silver E.,
RA   Sampson K.J., Kass R.S.;
RT   "A novel and lethal de novo LQT-3 mutation in a newborn with distinct
RT   molecular pharmacology and therapeutic response.";
RL   PLoS ONE 2:E1258-E1258(2007).
RN   [80]
RP   VARIANT BRGDA1 ASN-1494.
RX   PubMed=18341814;
RA   Tian L., Zhu J.F., Yang J.G.;
RT   "Gene (SCN5A) mutation analysis of a Chinese family with Brugada
RT   syndrome.";
RL   Zhonghua Xin Xue Guan Bing Za Zhi 35:1122-1125(2007).
RN   [81]
RP   VARIANT BRGDA1 CYS-878.
RX   PubMed=18616619; DOI=10.1111/j.1748-1716.2008.01883.x;
RA   Zhang Y., Wang T., Ma A., Zhou X., Gui J., Wan H., Shi R., Huang C.,
RA   Grace A.A., Huang C.L., Trump D., Zhang H., Zimmer T., Lei M.;
RT   "Correlations between clinical and physiological consequences of the
RT   novel mutation R878C in a highly conserved pore residue in the cardiac
RT   Na+ channel.";
RL   Acta Physiol. 194:311-323(2008).
RN   [82]
RP   VARIANT BRGDA1 LEU-2004, AND CHARACTERIZATION OF VARIANT BRGDA1
RP   LEU-2004.
RX   PubMed=18456723; DOI=10.1152/ajpheart.91495.2007;
RA   Bebarova M., O'Hara T., Geelen J.L.M.C., Jongbloed R.J.,
RA   Timmermans C., Arens Y.H., Rodriguez L.-M., Rudy Y., Volders P.G.A.;
RT   "Subepicardial phase 0 block and discontinuous transmural conduction
RT   underlie right precordial ST-segment elevation by a SCN5A loss-of-
RT   function mutation.";
RL   Am. J. Physiol. 295:H48-H58(2008).
RN   [83]
RP   VARIANT BRGDA1 SER-1850, AND CHARACTERIZATION OF VARIANT BRGDA1
RP   SER-1850.
RX   PubMed=18252757; DOI=10.1093/cvr/cvn023;
RA   Petitprez S., Jespersen T., Pruvot E., Keller D.I., Corbaz C.,
RA   Schlapfer J., Abriel H., Kucera J.P.;
RT   "Analyses of a novel SCN5A mutation (C1850S): conduction vs.
RT   repolarization disorder hypotheses in the Brugada syndrome.";
RL   Cardiovasc. Res. 78:494-504(2008).
RN   [84]
RP   VARIANTS ILE-232 AND PHE-1308.
RX   PubMed=18599870; DOI=10.1161/CIRCRESAHA.108.172619;
RA   Barajas-Martinez H.M., Hu D., Cordeiro J.M., Wu Y., Kovacs R.J.,
RA   Meltser H., Kui H., Elena B., Brugada R., Antzelevitch C., Dumaine R.;
RT   "Lidocaine-induced Brugada syndrome phenotype linked to a novel double
RT   mutation in the cardiac sodium channel.";
RL   Circ. Res. 103:396-404(2008).
RN   [85]
RP   VARIANTS ATFB10 ILE-138; LYS-428; ASP-445; LYS-470; ASP-572; LYS-655;
RP   LYS-1053; ILE-1131; CYS-1826 AND MET-1951, AND VARIANTS CYS-34;
RP   LEU-216; HIS-376; VAL-461; TRP-481; TYR-524; ARG-558; PHE-618;
RP   SER-997; TYR-1103; GLN-1193; LEU-1951 AND LEU-2004.
RX   PubMed=18378609; DOI=10.1161/CIRCULATIONAHA.107.757955;
RA   Darbar D., Kannankeril P.J., Donahue B.S., Kucera G., Stubblefield T.,
RA   Haines J.L., George A.L. Jr., Roden D.M.;
RT   "Cardiac sodium channel (SCN5A) variants associated with atrial
RT   fibrillation.";
RL   Circulation 117:1927-1935(2008).
RN   [86]
RP   VARIANT ATFB10 LYS-1987.
RX   PubMed=18088563; DOI=10.1016/j.hrthm.2007.09.015;
RA   Ellinor P.T., Nam E.G., Shea M.A., Milan D.J., Ruskin J.N.,
RA   MacRae C.A.;
RT   "Cardiac sodium channel mutation in atrial fibrillation.";
RL   Heart Rhythm 5:99-105(2008).
RN   [87]
RP   VARIANT LQT3 CYS-1795.
RX   PubMed=18929331; DOI=10.1016/j.hrthm.2008.07.013;
RA   Benito B., Brugada R., Perich R.M., Lizotte E., Cinca J., Mont L.,
RA   Berruezo A., Tolosana J.M., Freixa X., Brugada P., Brugada J.;
RT   "A mutation in the sodium channel is responsible for the association
RT   of long QT syndrome and familial atrial fibrillation.";
RL   Heart Rhythm 5:1434-1440(2008).
RN   [88]
RP   VARIANT LQT3 GLN-43, AND CHARACTERIZATION OF VARIANT LQT3 GLN-43.
RX   PubMed=18848812; DOI=10.1016/j.hrthm.2008.08.010;
RA   Lin M.-T., Wu M.-H., Chang C.-C., Chiu S.-N., Theriault O., Huang H.,
RA   Christe G., Ficker E., Chahine M.;
RT   "In utero onset of long QT syndrome with atrioventricular block and
RT   spontaneous or lidocaine-induced ventricular tachycardia: compound
RT   effects of hERG pore region mutation and SCN5A N-terminus variant.";
RL   Heart Rhythm 5:1567-1574(2008).
RN   [89]
RP   VARIANT ATRIAL FIBRILLATION THR-1875, AND CHARACTERIZATION OF VARIANT
RP   ATRIAL FIBRILLATION THR-1875.
RX   PubMed=18929244; DOI=10.1016/j.jacc.2008.07.013;
RA   Makiyama T., Akao M., Shizuta S., Doi T., Nishiyama K., Oka Y.,
RA   Ohno S., Nishio Y., Tsuji K., Itoh H., Kimura T., Kita T., Horie M.;
RT   "A novel SCN5A gain-of-function mutation M1875T associated with
RT   familial atrial fibrillation.";
RL   J. Am. Coll. Cardiol. 52:1326-1334(2008).
RN   [90]
RP   VARIANT LQT3/BRGDA1/SSS1 LYS-1784.
RX   PubMed=18451998; DOI=10.1172/JCI34057;
RA   Makita N., Behr E., Shimizu W., Horie M., Sunami A., Crotti L.,
RA   Schulze-Bahr E., Fukuhara S., Mochizuki N., Makiyama T., Itoh H.,
RA   Christiansen M., McKeown P., Miyamoto K., Kamakura S., Tsutsui H.,
RA   Schwartz P.J., George A.L. Jr., Roden D.M.;
RT   "The E1784K mutation in SCN5A is associated with mixed clinical
RT   phenotype of type 3 long QT syndrome.";
RL   J. Clin. Invest. 118:2219-2229(2008).
RN   [91]
RP   VARIANTS ARG-558 AND LEU-1090.
RX   PubMed=18368697; DOI=10.1016/j.ymgme.2007.10.009;
RA   Shan L., Makita N., Xing Y., Watanabe S., Futatani T., Ye F.,
RA   Saito K., Ibuki K., Watanabe K., Hirono K., Uese K., Ichida F.,
RA   Miyawaki T., Origasa H., Bowles N.E., Towbin J.A.;
RT   "SCN5A variants in Japanese patients with left ventricular
RT   noncompaction and arrhythmia.";
RL   Mol. Genet. Metab. 93:468-474(2008).
RN   [92]
RP   VARIANTS SIDS CYS-532; SER-1084 AND SER-1705, AND CHARACTERIZATION OF
RP   VARIANT SIDS SER-1705.
RX   PubMed=18596570; DOI=10.1203/PDR.0b013e3181841eca;
RA   Otagiri T., Kijima K., Osawa M., Ishii K., Makita N., Matoba R.,
RA   Umetsu K., Hayasaka K.;
RT   "Cardiac ion channel gene mutations in sudden infant death syndrome.";
RL   Pediatr. Res. 64:482-487(2008).
RN   [93]
RP   VARIANT IRRITABLE BOWEL SYNDROME SER-298, AND CHARACTERIZATION OF
RP   VARIANT IRRITABLE BOWEL SYNDROME SER-298.
RX   PubMed=19056759; DOI=10.1152/ajpgi.90571.2008;
RA   Saito Y.A., Strege P.R., Tester D.J., Locke G.R. III, Talley N.J.,
RA   Bernard C.E., Rae J.L., Makielski J.C., Ackerman M.J., Farrugia G.;
RT   "Sodium channel mutation in irritable bowel syndrome: evidence for an
RT   ion channelopathy.";
RL   Am. J. Physiol. 296:G211-G218(2009).
RN   [94]
RP   VARIANT SIDS TYR-1333.
RX   PubMed=19302788; DOI=10.1016/j.febslet.2009.02.007;
RA   Huang H., Millat G., Rodriguez-Lafrasse C., Rousson R., Kugener B.,
RA   Chevalier P., Chahine M.;
RT   "Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS
RT   infant linked to long QT syndrome.";
RL   FEBS Lett. 583:890-896(2009).
RN   [95]
RP   VARIANTS BRGDA1 LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232;
RP   ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743
RP   AND THR-1924, AND VARIANTS PFHB1A LYS-161; CYS-367; HIS-367; CYS-514;
RP   ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714;
RP   ARG-1740; GLU-1743 AND THR-1924.
RX   PubMed=19251209; DOI=10.1016/j.hrthm.2008.11.009;
RA   Meregalli P.G., Tan H.L., Probst V., Koopmann T.T., Tanck M.W.,
RA   Bhuiyan Z.A., Sacher F., Kyndt F., Schott J.-J., Albuisson J.,
RA   Mabo P., Bezzina C.R., Le Marec H., Wilde A.A.M.;
RT   "Type of SCN5A mutation determines clinical severity and degree of
RT   conduction slowing in loss-of-function sodium channelopathies.";
RL   Heart Rhythm 6:341-348(2009).
RN   [96]
RP   VARIANTS LQT3 GLN-18; HIS-27; GLY-30; GLN-43; LYS-48; SER-52; GLN-53;
RP   GLY-104; GLY-115; LEU-125; PRO-212; GLN-222; TRP-225; MET-240;
RP   LEU-247; LYS-275; SER-289; TRP-340; CYS-367; MET-370; THR-397;
RP   LYS-406; VAL-409; MET-411; GLU-429 DEL; ALA-462; VAL-530; GLN-535;
RP   TRP-569; ILE-571; SER-572; VAL-572; 586-ALA-LEU-587 DEL; GLU-615;
RP   ARG-639; LYS-654; PRO-673; CYS-689; LEU-701; ILE-731; ARG-750;
RP   ASN-772; TYR-816; PHE-848; LYS-960; LEU-965; PHE-981; SER-997;
RP   ARG-1004; LYS-1053; MET-1069; VAL-1100; ASN-1114; ASN-1166; SER-1199;
RP   ILE-1212 DEL; MET-1283; MET-1304; SER-1325; SER-1326; VAL-1334;
RP   VAL-1338; SER-1432; SER-1472; CYS-1473; GLU-1481; LEU-1487; ARG-1488;
RP   ASP-1489; ARG-1493; SER-1495; VAL-1498; VAL-1501; ASN-1505; ILE-1532;
RP   PHE-1560; MET-1593; SER-1594; ILE-1596; PHE-1617 DEL; GLN-1623;
RP   LEU-1623; HIS-1626; CYS-1644; PHE-1650; THR-1652; ASN-1723; TRP-1739;
RP   HIS-1761; PHE-1761; MET-1763; MET-1777; MET-1779; LYS-1784; CYS-1795;
RP   HIS-1826; GLY-1839; TRP-1897; GLN-1901; ASN-1977; VAL-2004 AND
RP   CYS-2012.
RX   PubMed=19716085; DOI=10.1016/j.hrthm.2009.05.021;
RA   Kapplinger J.D., Tester D.J., Salisbury B.A., Carr J.L.,
RA   Harris-Kerr C., Pollevick G.D., Wilde A.A., Ackerman M.J.;
RT   "Spectrum and prevalence of mutations from the first 2,500 consecutive
RT   unrelated patients referred for the FAMILION long QT syndrome genetic
RT   test.";
RL   Heart Rhythm 6:1297-1303(2009).
RN   [97]
RP   VARIANT BRGDA1 CYS-965, AND CHARACTERIZATION OF VARIANT BRGDA1
RP   CYS-965.
RX   PubMed=19272188; DOI=10.1186/1423-0127-16-23;
RA   Hsueh C.H., Chen W.P., Lin J.L., Tsai C.T., Liu Y.B., Juang J.M.,
RA   Tsao H.M., Su M.J., Lai L.P.;
RT   "Distinct functional defect of three novel Brugada syndrome related
RT   cardiac sodium channel mutations.";
RL   J. Biomed. Sci. 16:23-23(2009).
RN   [98]
RP   VARIANTS TRP-18; CYS-34; HIS-34; LEU-216; SER-286; SER-291; MET-299;
RP   CYS-376; GLY-447; ALA-449; VAL-461; SER-475; TRP-481; TYR-524;
RP   ARG-558; HIS-568; ARG-579; LYS-592; GLY-596; ALA-601; PHE-618;
RP   ASP-638; LEU-656; THR-672; HIS-689; LYS-692; PHE-705; ILE-924;
RP   GLN-986; MET-1016; ARG-1040; ALA-1082; LEU-1090; LEU-1098; TYR-1103;
RP   LYS-1107; TRP-1116; GLN-1193; MET-1251; SER-1293; PHE-1308; TRP-1512;
RP   ASN-1787; THR-1836; LYS-1901; CYS-1919; LEU-1951; GLN-1958; LEU-1962;
RP   MET-1968; GLN-1991; LEU-2004 AND ALA-2006, AND VARIANTS BRGDA1 GLN-18;
RP   LYS-70; ASN-84; SER-93; SER-94; GLN-104; TRP-104; LYS-109; GLN-121;
RP   TRP-121; GLU-126; PRO-136; MET-146; GLN-161; LYS-161; ASN-175;
RP   GLY-178; ARG-182; VAL-185; VAL-204; GLN-212; ILE-220; GLN-222;
RP   LEU-223; TRP-225; VAL-226; ILE-232; MET-240; LYS-270; GLN-276;
RP   ASP-278; CYS-282; ILE-300; PRO-315; ASN-320; ARG-325; LEU-336;
RP   ASP-351; VAL-351; ASN-356; CYS-367; HIS-367; LEU-367; LYS-369;
RP   GLY-374; HIS-376; ARG-386; GLU-386; ALA-396; LEU-396; LYS-439;
RP   GLY-501; HIS-526; CYS-532; LEU-543; ARG-552; GLU-615; PHE-619;
RP   CYS-620; MET-632; ALA-640; ASP-647; LEU-648; TRP-661; GLY-683;
RP   LEU-701; LEU-717; VAL-735; LYS-746; ARG-752; GLU-758; ARG-764;
RP   ASN-772; SER-773; ILE-789; PRO-808; PRO-839; LEU-851; GLN-867;
RP   CYS-878; HIS-878; PRO-886; CYS-893; HIS-893; LYS-901; LEU-910;
RP   ARG-915; ARG-917; SER-927; PRO-928; PRO-935; CYS-965; HIS-965;
RP   THR-997; LYS-1053; GLY-1055; TYR-1079; VAL-1113; THR-1140; ASN-1219;
RP   LYS-1225; HIS-1228; GLN-1232; TRP-1232; PRO-1239; ASN-1243; ASP-1249;
RP   GLY-1253; SER-1262; CYS-1271; ASN-1275; GLY-1288; PRO-1311; VAL-1319;
RP   GLY-1323; LEU-1332; LEU-1344; ILE-1346; PRO-1346; ARG-1351; MET-1353;
RP   TRP-1358; ASN-1359; CYS-1360; TYR-1363; ILE-1382; LEU-1405; MET-1405;
RP   ARG-1406; GLU-1406; ARG-1408; CYS-1409; PHE-1412; GLU-1419; ARG-1420;
RP   SER-1427; VAL-1428; GLY-1432; SER-1432; VAL-1433; LEU-1438; GLN-1441;
RP   LEU-1448; THR-1448; CYS-1449; ASP-1451; TYR-1463; PHE-1468; VAL-1501;
RP   LYS-1521; MET-1525; LYS-1548; CYS-1571; LYS-1574; PRO-1582; CYS-1583;
RP   HIS-1583; MET-1604; LEU-1613; MET-1620; GLN-1623; GLN-1629; GLU-1642;
RP   VAL-1660; ARG-1661; ILE-1667; TYR-1672; THR-1680; THR-1698; ARG-1709;
RP   MET-1709; SER-1712; GLY-1714; ASP-1722; ARG-1728; TRP-1728; ARG-1740;
RP   ARG-1743; GLU-1743; PHE-1764; MET-1779; LYS-1784; GLU-1832; ILE-1861;
RP   ASN-1872; LEU-1903; THR-1924; SER-1935; LYS-1938 AND VAL-2004.
RX   PubMed=20129283; DOI=10.1016/j.hrthm.2009.09.069;
RA   Kapplinger J.D., Tester D.J., Alders M., Benito B., Berthet M.,
RA   Brugada J., Brugada P., Fressart V., Guerchicoff A., Harris-Kerr C.,
RA   Kamakura S., Kyndt F., Koopmann T.T., Miyamoto Y., Pfeiffer R.,
RA   Pollevick G.D., Probst V., Zumhagen S., Vatta M., Towbin J.A.,
RA   Shimizu W., Schulze-Bahr E., Antzelevitch C., Salisbury B.A.,
RA   Guicheney P., Wilde A.A., Brugada R., Schott J.J., Ackerman M.J.;
RT   "An international compendium of mutations in the SCN5A-encoded cardiac
RT   sodium channel in patients referred for Brugada syndrome genetic
RT   testing.";
RL   Heart Rhythm 7:33-46(2010).
RN   [99]
RP   CHARACTERIZATION OF VARIANTS ARG-558 AND ALA-2006.
RX   PubMed=21109022; DOI=10.1016/j.hrthm.2010.11.034;
RA   Shinlapawittayatorn K., Du X.X., Liu H., Ficker E., Kaufman E.S.,
RA   Deschenes I.;
RT   "A common SCN5A polymorphism modulates the biophysical defects of
RT   SCN5A mutations.";
RL   Heart Rhythm 8:455-462(2011).
RN   [100]
RP   VARIANTS SSS1 VAL-735 AND ASN-1792.
RX   PubMed=22795782; DOI=10.1016/j.arcped.2012.04.017;
RA   Selly J.B., Boumahni B., Edmar A., Jamal Bey K., Randrianaivo H.,
RA   Clerici G., Millat G., Caillet D.;
RT   "Cardiac sinus node dysfunction due to a new mutation of the SCN5A
RT   gene.";
RL   Arch. Pediatr. 19:837-841(2012).
RN   [101]
RP   VARIANT ARG-558, VARIANTS BRGDA1 ASN-1690 AND ASP-1748,
RP   CHARACTERIZATION OF VARIANTS BRGDA1 ASN-1690 AND ASP-1748, FUNCTION,
RP   AND SUBCELLULAR LOCATION.
RX   PubMed=23085483; DOI=10.1016/j.hrthm.2012.10.025;
RA   Nunez L., Barana A., Amoros I., de la Fuente M.G., Dolz-Gaiton P.,
RA   Gomez R., Rodriguez-Garcia I., Mosquera I., Monserrat L., Delpon E.,
RA   Caballero R., Castro-Beiras A., Tamargo J.;
RT   "p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a
RT   compound heterozygous Brugada syndrome patient.";
RL   Heart Rhythm 10:264-272(2013).
RN   [102]
RP   VARIANT BRGDA1 GLN-1629, CHARACTERIZATION OF VARIANT BRGDA1 GLN-1629,
RP   AND FUNCTION.
RX   PubMed=24167619; DOI=10.1371/journal.pone.0078382;
RA   Zeng Z., Zhou J., Hou Y., Liang X., Zhang Z., Xu X., Xie Q., Li W.,
RA   Huang Z.;
RT   "Electrophysiological characteristics of a SCN5A voltage sensors
RT   mutation R1629Q associated with Brugada syndrome.";
RL   PLoS ONE 8:E78382-E78382(2013).
RN   [103]
RP   VARIANT BRGDA1 GLN-812, CHARACTERIZATION OF VARIANT BRGDA1 GLN-812,
RP   FUNCTION, AND SUBCELLULAR LOCATION.
RX   PubMed=26279430; DOI=10.1159/000430189;
RA   Wang L., Meng X., Yuchi Z., Zhao Z., Xu D., Fedida D., Wang Z.,
RA   Huang C.;
RT   "De novo mutation in the SCN5A gene associated with brugada
RT   syndrome.";
RL   Cell. Physiol. Biochem. 36:2250-2262(2015).
RN   [104]
RP   VARIANT LQT3 ARG-1849, CHARACTERIZATION OF VARIANT LQT3 ARG-1849,
RP   FUNCTION, AND INTERACTION WITH FGF12; FGF13 AND FGF14.
RX   PubMed=26392562; DOI=10.1073/pnas.1516430112;
RA   Musa H., Kline C.F., Sturm A.C., Murphy N., Adelman S., Wang C.,
RA   Yan H., Johnson B.L., Csepe T.A., Kilic A., Higgins R.S.,
RA   Janssen P.M., Fedorov V.V., Weiss R., Salazar C., Hund T.J.,
RA   Pitt G.S., Mohler P.J.;
RT   "SCN5A variant that blocks fibroblast growth factor homologous factor
RT   regulation causes human arrhythmia.";
RL   Proc. Natl. Acad. Sci. U.S.A. 112:12528-12533(2015).
RN   [105]
RP   VARIANT BRGDA1 GLU-817, CHARACTERIZATION OF VARIANT BRGDA1 GLU-817,
RP   AND FUNCTION.
RX   PubMed=26776555; DOI=10.1016/j.hrthm.2016.01.008;
RA   Kinoshita K., Takahashi H., Hata Y., Nishide K., Kato M., Fujita H.,
RA   Yoshida S., Murai K., Mizumaki K., Nishida K., Yamaguchi Y., Kano M.,
RA   Tabata T., Nishida N.;
RT   "SCN5A(K817E), a novel Brugada syndrome-associated mutation that
RT   alters the activation gating of NaV1.5 channel.";
RL   Heart Rhythm 13:1113-1120(2016).
CC   -!- FUNCTION: This protein mediates the voltage-dependent sodium ion
CC       permeability of excitable membranes. Assuming opened or closed
CC       conformations in response to the voltage difference across the
CC       membrane, the protein forms a sodium-selective channel through
CC       which Na(+) ions may pass in accordance with their electrochemical
CC       gradient. It is a tetrodotoxin-resistant Na(+) channel isoform.
CC       This channel is responsible for the initial upstroke of the action
CC       potential. Channel inactivation is regulated by intracellular
CC       calcium levels. {ECO:0000269|PubMed:1309946,
CC       ECO:0000269|PubMed:19074138, ECO:0000269|PubMed:23085483,
CC       ECO:0000269|PubMed:24167619, ECO:0000269|PubMed:26279430,
CC       ECO:0000269|PubMed:26392562, ECO:0000269|PubMed:26776555}.
CC   -!- SUBUNIT: Interacts with the PDZ domain of the syntrophin SNTA1,
CC       SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L,
CC       WWP2 and GPD1L (PubMed:15217910, PubMed:15548568,
CC       PubMed:19666841). Interacts with CALM (PubMed:21167176,
CC       PubMed:22705208). Interacts with FGF13; the interaction is direct
CC       and FGF13 may regulate SNC5A density at membranes and function
CC       (PubMed:21817159, PubMed:22705208, PubMed:26392562). May also
CC       interact with FGF12 and FGF14 (PubMed:26392562). Interacts with
CC       the spider toxin Jingzhaotoxin-I (AC P83974, AC B1P1B7, AC B1P1B8)
CC       (PubMed:26721415). {ECO:0000250|UniProtKB:Q9JJV9,
CC       ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15548568,
CC       ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:21167176,
CC       ECO:0000269|PubMed:21817159, ECO:0000269|PubMed:22705208,
CC       ECO:0000269|PubMed:26392562, ECO:0000269|PubMed:26721415}.
CC   -!- INTERACTION:
CC       P62158:CALM3; NbExp=8; IntAct=EBI-726858, EBI-397435;
CC       Q13557:CAMK2D; NbExp=16; IntAct=EBI-726858, EBI-351018;
CC       P61328-2:FGF12; NbExp=4; IntAct=EBI-726858, EBI-10699759;
CC       Q99873:PRMT1; NbExp=2; IntAct=EBI-726858, EBI-78738;
CC       O60678:PRMT3; NbExp=2; IntAct=EBI-726858, EBI-2809009;
CC       P26045:PTPN3; NbExp=2; IntAct=EBI-726858, EBI-1047946;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1309946,
CC       ECO:0000269|PubMed:19074138, ECO:0000269|PubMed:23085483,
CC       ECO:0000269|PubMed:26279430}; Multi-pass membrane protein
CC       {ECO:0000250|UniProtKB:D0E0C2}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=6;
CC       Name=1; Synonyms=CAG-inclusive variant, Nav1.5c;
CC         IsoId=Q14524-1; Sequence=Displayed;
CC         Note=Most abundant isoform in heart.;
CC       Name=2; Synonyms=Nav1.5b;
CC         IsoId=Q14524-2; Sequence=VSP_037478;
CC         Note=Very abundant isoform.;
CC       Name=3;
CC         IsoId=Q14524-3; Sequence=VSP_037477, VSP_037478, VSP_037481;
CC       Name=4; Synonyms=Nav1.5e, neonatal;
CC         IsoId=Q14524-4; Sequence=VSP_037477;
CC         Note=Abundantly expressed in neonatal brain and heart, slower
CC         kinetics of activation and inactivation.;
CC       Name=5; Synonyms=Ex18del, Nav1.5a;
CC         IsoId=Q14524-5; Sequence=VSP_037477, VSP_037479;
CC         Note=Only detected in neuroblastoma in humans.;
CC       Name=6; Synonyms=Ex24del, Nav1.5f;
CC         IsoId=Q14524-6; Sequence=VSP_037477, VSP_037480;
CC         Note=High expression in brain where it accounts for nearly 50%
CC         of the total transcripts. Non-functional channel, may exist to
CC         limit the number of undesired functional Nav1.5 channels.;
CC   -!- TISSUE SPECIFICITY: Found in jejunal circular smooth muscle cells
CC       (at protein level). Expressed in human atrial and ventricular
CC       cardiac muscle but not in adult skeletal muscle, brain,
CC       myometrium, liver, or spleen. Isoform 4 is expressed in brain.
CC       {ECO:0000269|PubMed:12358675}.
CC   -!- DOMAIN: The sequence contains 4 internal repeats, each with 5
CC       hydrophobic segments (S1, S2, S3, S5, S6) and one positively
CC       charged segment (S4). Segments S4 are probably the voltage-sensors
CC       and are characterized by a series of positively charged amino
CC       acids at every third position. {ECO:0000305}.
CC   -!- DOMAIN: The IQ domain mediates association with calmodulin.
CC       {ECO:0000269|PubMed:21167176, ECO:0000269|PubMed:22705208}.
CC   -!- PTM: Ubiquitinated by NEDD4L; which promotes its endocytosis. Does
CC       not seem to be ubiquitinated by NEDD4 or WWP2.
CC       {ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15548568}.
CC   -!- PTM: Phosphorylation at Ser-1503 by PKC in a highly conserved
CC       cytoplasmic loop slows inactivation of the sodium channel and
CC       reduces peak sodium currents (Probable). Regulated through
CC       phosphorylation by CaMK2D (By similarity).
CC       {ECO:0000250|UniProtKB:Q9JJV9, ECO:0000305|PubMed:19666841}.
CC   -!- PTM: Lacks the cysteine which covalently binds the conotoxin
CC       GVIIJ. This cysteine (position 868) is speculated in other sodium
CC       channel subunits alpha to be implied in covalent binding with the
CC       sodium channel subunit beta-2 or beta-4.
CC       {ECO:0000250|UniProtKB:P15389}.
CC   -!- DISEASE: Progressive familial heart block 1A (PFHB1A)
CC       [MIM:113900]: A cardiac bundle branch disorder characterized by
CC       progressive alteration of cardiac conduction through the His-
CC       Purkinje system, with a pattern of a right bundle-branch block
CC       and/or left anterior hemiblock occurring individually or together.
CC       It leads to complete atrio-ventricular block causing syncope and
CC       sudden death. {ECO:0000269|PubMed:11234013,
CC       ECO:0000269|PubMed:11804990, ECO:0000269|PubMed:12569159,
CC       ECO:0000269|PubMed:12574143, ECO:0000269|PubMed:19251209}.
CC       Note=The disease is caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- DISEASE: Long QT syndrome 3 (LQT3) [MIM:603830]: A heart disorder
CC       characterized by a prolonged QT interval on the ECG and
CC       polymorphic ventricular arrhythmias. They cause syncope and sudden
CC       death in response to exercise or emotional stress, and can present
CC       with a sentinel event of sudden cardiac death in infancy.
CC       {ECO:0000269|PubMed:10377081, ECO:0000269|PubMed:10508990,
CC       ECO:0000269|PubMed:10590249, ECO:0000269|PubMed:10627139,
CC       ECO:0000269|PubMed:10911008, ECO:0000269|PubMed:10973849,
CC       ECO:0000269|PubMed:11304498, ECO:0000269|PubMed:11410597,
CC       ECO:0000269|PubMed:11710892, ECO:0000269|PubMed:11889015,
CC       ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12209021,
CC       ECO:0000269|PubMed:12454206, ECO:0000269|PubMed:12673799,
CC       ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16414944,
CC       ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:18060054,
CC       ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18708744,
CC       ECO:0000269|PubMed:18848812, ECO:0000269|PubMed:18929331,
CC       ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:26392562,
CC       ECO:0000269|PubMed:7651517, ECO:0000269|PubMed:7889574,
CC       ECO:0000269|PubMed:8541846, ECO:0000269|PubMed:9506831,
CC       ECO:0000269|PubMed:9686753, ECO:0000269|Ref.32}. Note=The disease
CC       is caused by mutations affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Brugada syndrome 1 (BRGDA1) [MIM:601144]: A
CC       tachyarrhythmia characterized by right bundle branch block and ST
CC       segment elevation on an electrocardiogram (ECG). It can cause the
CC       ventricles to beat so fast that the blood is prevented from
CC       circulating efficiently in the body. When this situation occurs,
CC       the individual will faint and may die in a few minutes if the
CC       heart is not reset. {ECO:0000269|PubMed:10532948,
CC       ECO:0000269|PubMed:10618304, ECO:0000269|PubMed:10690282,
CC       ECO:0000269|PubMed:11410597, ECO:0000269|PubMed:11748104,
CC       ECO:0000269|PubMed:11823453, ECO:0000269|PubMed:11901046,
CC       ECO:0000269|PubMed:12051963, ECO:0000269|PubMed:12106943,
CC       ECO:0000269|PubMed:15023552, ECO:0000269|PubMed:15338453,
CC       ECO:0000269|PubMed:15579534, ECO:0000269|PubMed:15851320,
CC       ECO:0000269|PubMed:16266370, ECO:0000269|PubMed:16325048,
CC       ECO:0000269|PubMed:16616735, ECO:0000269|PubMed:17075016,
CC       ECO:0000269|PubMed:17081365, ECO:0000269|PubMed:17198989,
CC       ECO:0000269|PubMed:18252757, ECO:0000269|PubMed:18341814,
CC       ECO:0000269|PubMed:18451998, ECO:0000269|PubMed:18456723,
CC       ECO:0000269|PubMed:18616619, ECO:0000269|PubMed:19251209,
CC       ECO:0000269|PubMed:19272188, ECO:0000269|PubMed:20129283,
CC       ECO:0000269|PubMed:23085483, ECO:0000269|PubMed:24167619,
CC       ECO:0000269|PubMed:26279430, ECO:0000269|PubMed:26776555,
CC       ECO:0000269|PubMed:9521325}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Sick sinus syndrome 1 (SSS1) [MIM:608567]: The term 'sick
CC       sinus syndrome' encompasses a variety of conditions caused by
CC       sinus node dysfunction. The most common clinical manifestations
CC       are syncope, presyncope, dizziness, and fatigue. Electrocardiogram
CC       typically shows sinus bradycardia, sinus arrest, and/or sinoatrial
CC       block. Episodes of atrial tachycardias coexisting with sinus
CC       bradycardia ('tachycardia-bradycardia syndrome') are also common
CC       in this disorder. SSS occurs most often in the elderly associated
CC       with underlying heart disease or previous cardiac surgery, but can
CC       also occur in the fetus, infant, or child without heart disease or
CC       other contributing factors. SSS1 onset is in utero, infancy, or
CC       early childhood. {ECO:0000269|PubMed:11748104,
CC       ECO:0000269|PubMed:14523039, ECO:0000269|PubMed:22795782}.
CC       Note=The disease is caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- DISEASE: Familial paroxysmal ventricular fibrillation 1 (VF1)
CC       [MIM:603829]: A cardiac arrhythmia marked by fibrillary
CC       contractions of the ventricular muscle due to rapid repetitive
CC       excitation of myocardial fibers without coordinated contraction of
CC       the ventricle and by absence of atrial activity.
CC       {ECO:0000269|PubMed:10940383}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is
CC       the sudden death of an infant younger than 1 year that remains
CC       unexplained after a thorough case investigation, including
CC       performance of a complete autopsy, examination of the death scene,
CC       and review of clinical history. Pathophysiologic mechanisms for
CC       SIDS may include respiratory dysfunction, cardiac dysrhythmias,
CC       cardiorespiratory instability, and inborn errors of metabolism,
CC       but definitive pathogenic mechanisms precipitating an infant
CC       sudden death remain elusive. {ECO:0000269|PubMed:18596570,
CC       ECO:0000269|PubMed:19302788}. Note=Disease susceptibility is
CC       associated with variations affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Atrial standstill 1 (ATRST1) [MIM:108770]: A rare
CC       arrhythmia characterized by the absence of electrical and
CC       mechanical activity in the atria. Electrocardiographically, it is
CC       characterized by bradycardia, the absence of P waves, and a
CC       junctional narrow complex escape rhythm.
CC       {ECO:0000269|PubMed:12522116}. Note=The disease may be caused by
CC       mutations affecting distinct genetic loci, including the gene
CC       represented in this entry. A mutation in SCN5A has been detected
CC       in combination with a rare GJA5 genotype in a large family with
CC       atrial standstill.
CC   -!- DISEASE: Cardiomyopathy, dilated 1E (CMD1E) [MIM:601154]: A
CC       disorder characterized by ventricular dilation and impaired
CC       systolic function, resulting in congestive heart failure and
CC       arrhythmia. Patients are at risk of premature death.
CC       {ECO:0000269|PubMed:15466643}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]:
CC       A familial form of atrial fibrillation, a common sustained cardiac
CC       rhythm disturbance. Atrial fibrillation is characterized by
CC       disorganized atrial electrical activity and ineffective atrial
CC       contraction promoting blood stasis in the atria and reduces
CC       ventricular filling. It can result in palpitations, syncope,
CC       thromboembolic stroke, and congestive heart failure.
CC       {ECO:0000269|PubMed:18088563, ECO:0000269|PubMed:18378609}.
CC       Note=The disease is caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- MISCELLANEOUS: Na(+) channels in mammalian cardiac membrane have
CC       functional properties quite distinct from Na(+) channels in nerve
CC       and skeletal muscle.
CC   -!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
CC       Nav1.5/SCN5A subfamily. {ECO:0000305}.
DR   EMBL; M77235; AAA58644.1; -; mRNA.
DR   EMBL; AY038064; AAK74065.1; -; mRNA.
DR   EMBL; AY148488; AAN61120.1; -; mRNA.
DR   EMBL; AF482988; AAO91669.1; -; mRNA.
DR   EMBL; AB158469; BAD12084.1; -; mRNA.
DR   EMBL; AB158470; BAD12085.1; -; mRNA.
DR   EMBL; EF629346; ABR15763.1; -; mRNA.
DR   EMBL; EF629347; ABR15764.1; -; mRNA.
DR   EMBL; DQ784809; ABQ01244.1; -; Genomic_DNA.
DR   EMBL; EF179185; ABN05288.1; -; Genomic_DNA.
DR   EMBL; AP006241; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC140813; AAI40814.1; -; mRNA.
DR   EMBL; BC144621; AAI44622.1; -; mRNA.
DR   EMBL; AB208866; BAD92103.1; -; mRNA.
DR   CCDS; CCDS46796.1; -. [Q14524-1]
DR   CCDS; CCDS46797.1; -. [Q14524-2]
DR   CCDS; CCDS46798.1; -. [Q14524-6]
DR   CCDS; CCDS46799.1; -. [Q14524-4]
DR   CCDS; CCDS54569.1; -. [Q14524-5]
DR   CCDS; CCDS54570.1; -. [Q14524-3]
DR   PIR; A38195; A38195.
DR   RefSeq; NP_000326.2; NM_000335.4. [Q14524-2]
DR   RefSeq; NP_001092874.1; NM_001099404.1.
DR   RefSeq; NP_001092875.1; NM_001099405.1.
DR   RefSeq; NP_001153632.1; NM_001160160.1.
DR   RefSeq; NP_001153633.1; NM_001160161.1.
DR   RefSeq; NP_932173.1; NM_198056.2. [Q14524-1]
DR   UniGene; Hs.517898; -.
DR   PDB; 2KBI; NMR; -; A=1773-1865.
DR   PDB; 2L53; NMR; -; B=1901-1927.
DR   PDB; 4DCK; X-ray; 2.20 A; A=1773-1940.
DR   PDB; 4DJC; X-ray; 1.35 A; B=1491-1522.
DR   PDB; 4JQ0; X-ray; 3.84 A; D=1773-1940.
DR   PDB; 4OVN; X-ray; 2.80 A; F/G/H/I/J=1773-1929.
DR   PDB; 5DBR; X-ray; 2.25 A; C=1483-1529.
DR   PDBsum; 2KBI; -.
DR   PDBsum; 2L53; -.
DR   PDBsum; 4DCK; -.
DR   PDBsum; 4DJC; -.
DR   PDBsum; 4JQ0; -.
DR   PDBsum; 4OVN; -.
DR   PDBsum; 5DBR; -.
DR   ProteinModelPortal; Q14524; -.
DR   SMR; Q14524; -.
DR   BioGrid; 112236; 14.
DR   CORUM; Q14524; -.
DR   DIP; DIP-38416N; -.
DR   DIP; DIP-46144N; -.
DR   IntAct; Q14524; 22.
DR   MINT; MINT-249922; -.
DR   STRING; 9606.ENSP00000328968; -.
DR   BindingDB; Q14524; -.
DR   ChEMBL; CHEMBL1980; -.
DR   DrugBank; DB01426; Ajmaline.
DR   DrugBank; DB01429; Aprindine.
DR   DrugBank; DB00868; Benzonatate.
DR   DrugBank; DB00564; Carbamazepine.
DR   DrugBank; DB00527; Cinchocaine.
DR   DrugBank; DB00907; Cocaine.
DR   DrugBank; DB00280; Disopyramide.
DR   DrugBank; DB01228; Encainide.
DR   DrugBank; DB00754; Ethotoin.
DR   DrugBank; DB01195; Flecainide.
DR   DrugBank; DB01320; Fosphenytoin.
DR   DrugBank; DB00473; Hexylcaine.
DR   DrugBank; DB00192; Indecainide.
DR   DrugBank; DB00281; Lidocaine.
DR   DrugBank; DB00532; Mephenytoin.
DR   DrugBank; DB00379; Mexiletine.
DR   DrugBank; DB00680; Moricizine.
DR   DrugBank; DB00776; Oxcarbazepine.
DR   DrugBank; DB00252; Phenytoin.
DR   DrugBank; DB00750; Prilocaine.
DR   DrugBank; DB01035; Procainamide.
DR   DrugBank; DB01182; Propafenone.
DR   DrugBank; DB00908; Quinidine.
DR   DrugBank; DB01346; Quinidine barbiturate.
DR   DrugBank; DB00243; Ranolazine.
DR   DrugBank; DB00740; Riluzole.
DR   DrugBank; DB01056; Tocainide.
DR   DrugBank; DB00313; Valproic Acid.
DR   DrugBank; DB00661; Verapamil.
DR   DrugBank; DB00909; Zonisamide.
DR   GuidetoPHARMACOLOGY; 582; -.
DR   TCDB; 1.A.1.10.3; the voltage-gated ion channel (vic) superfamily.
DR   iPTMnet; Q14524; -.
DR   PhosphoSitePlus; Q14524; -.
DR   BioMuta; SCN5A; -.
DR   DMDM; 215273881; -.
DR   PaxDb; Q14524; -.
DR   PeptideAtlas; Q14524; -.
DR   PRIDE; Q14524; -.
DR   Ensembl; ENST00000333535; ENSP00000328968; ENSG00000183873. [Q14524-1]
DR   Ensembl; ENST00000423572; ENSP00000398266; ENSG00000183873. [Q14524-2]
DR   GeneID; 6331; -.
DR   KEGG; hsa:6331; -.
DR   UCSC; uc062ihe.1; human. [Q14524-1]
DR   CTD; 6331; -.
DR   DisGeNET; 6331; -.
DR   EuPathDB; HostDB:ENSG00000183873.15; -.
DR   GeneCards; SCN5A; -.
DR   GeneReviews; SCN5A; -.
DR   HGNC; HGNC:10593; SCN5A.
DR   MalaCards; SCN5A; -.
DR   MIM; 108770; phenotype.
DR   MIM; 113900; phenotype.
DR   MIM; 272120; phenotype.
DR   MIM; 600163; gene.
DR   MIM; 601144; phenotype.
DR   MIM; 601154; phenotype.
DR   MIM; 603829; phenotype.
DR   MIM; 603830; phenotype.
DR   MIM; 608567; phenotype.
DR   MIM; 614022; phenotype.
DR   neXtProt; NX_Q14524; -.
DR   OpenTargets; ENSG00000183873; -.
DR   Orphanet; 1344; Atrial stand still.
DR   Orphanet; 130; Brugada syndrome.
DR   Orphanet; 334; Familial atrial fibrillation.
DR   Orphanet; 154; Familial isolated dilated cardiomyopathy.
DR   Orphanet; 871; Familial progressive cardiac conduction defect.
DR   Orphanet; 166282; Familial sick sinus syndrome.
DR   Orphanet; 228140; Idiopathic ventricular fibrillation, not Brugada type.
DR   Orphanet; 101016; Romano-Ward syndrome.
DR   PharmGKB; PA304; -.
DR   eggNOG; KOG2301; Eukaryota.
DR   eggNOG; ENOG410XNP6; LUCA.
DR   GeneTree; ENSGT00830000128242; -.
DR   HOVERGEN; HBG053100; -.
DR   InParanoid; Q14524; -.
DR   KO; K04838; -.
DR   OrthoDB; EOG091G00FK; -.
DR   PhylomeDB; Q14524; -.
DR   Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
DR   Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
DR   SIGNOR; Q14524; -.
DR   EvolutionaryTrace; Q14524; -.
DR   GeneWiki; Nav1.5; -.
DR   GenomeRNAi; 6331; -.
DR   PRO; PR:Q14524; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   Bgee; ENSG00000183873; -.
DR   CleanEx; HS_SCN5A; -.
DR   ExpressionAtlas; Q14524; baseline and differential.
DR   Genevisible; Q14524; HS.
DR   GO; GO:0005901; C:caveola; IDA:BHF-UCL.
DR   GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR   GO; GO:0005783; C:endoplasmic reticulum; IDA:BHF-UCL.
DR   GO; GO:0016021; C:integral component of membrane; IDA:UniProtKB.
DR   GO; GO:0014704; C:intercalated disc; IDA:BHF-UCL.
DR   GO; GO:0005622; C:intracellular; IDA:UniProtKB.
DR   GO; GO:0016328; C:lateral plasma membrane; TAS:BHF-UCL.
DR   GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
DR   GO; GO:0042383; C:sarcolemma; IDA:BHF-UCL.
DR   GO; GO:0030315; C:T-tubule; IDA:BHF-UCL.
DR   GO; GO:0001518; C:voltage-gated sodium channel complex; IDA:BHF-UCL.
DR   GO; GO:0030018; C:Z disc; IDA:UniProtKB.
DR   GO; GO:0030506; F:ankyrin binding; IDA:BHF-UCL.
DR   GO; GO:0005516; F:calmodulin binding; IPI:BHF-UCL.
DR   GO; GO:0019899; F:enzyme binding; IPI:BHF-UCL.
DR   GO; GO:0017134; F:fibroblast growth factor binding; IPI:BHF-UCL.
DR   GO; GO:0044325; F:ion channel binding; IPI:BHF-UCL.
DR   GO; GO:0050998; F:nitric-oxide synthase binding; IPI:BHF-UCL.
DR   GO; GO:0019904; F:protein domain specific binding; IPI:UniProtKB.
DR   GO; GO:0019901; F:protein kinase binding; IPI:BHF-UCL.
DR   GO; GO:0097110; F:scaffold protein binding; IPI:BHF-UCL.
DR   GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:BHF-UCL.
DR   GO; GO:0005248; F:voltage-gated sodium channel activity; IDA:UniProtKB.
DR   GO; GO:0086060; F:voltage-gated sodium channel activity involved in AV node cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086061; F:voltage-gated sodium channel activity involved in bundle of His cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086006; F:voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IDA:BHF-UCL.
DR   GO; GO:0086062; F:voltage-gated sodium channel activity involved in Purkinje myocyte action potential; IMP:BHF-UCL.
DR   GO; GO:0086063; F:voltage-gated sodium channel activity involved in SA node cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086014; P:atrial cardiac muscle cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086016; P:AV node cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086067; P:AV node cell to bundle of His cell communication; IMP:BHF-UCL.
DR   GO; GO:0003360; P:brainstem development; ISS:BHF-UCL.
DR   GO; GO:0086043; P:bundle of His cell action potential; IMP:BHF-UCL.
DR   GO; GO:0061337; P:cardiac conduction; TAS:Reactome.
DR   GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
DR   GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR   GO; GO:0003231; P:cardiac ventricle development; ISS:BHF-UCL.
DR   GO; GO:0071277; P:cellular response to calcium ion; IDA:UniProtKB.
DR   GO; GO:0021549; P:cerebellum development; ISS:BHF-UCL.
DR   GO; GO:0051899; P:membrane depolarization; IDA:BHF-UCL.
DR   GO; GO:0086010; P:membrane depolarization during action potential; IDA:BHF-UCL.
DR   GO; GO:0098912; P:membrane depolarization during atrial cardiac muscle cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086045; P:membrane depolarization during AV node cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086048; P:membrane depolarization during bundle of His cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086012; P:membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086047; P:membrane depolarization during Purkinje myocyte cell action potential; IMP:BHF-UCL.
DR   GO; GO:0086046; P:membrane depolarization during SA node cell action potential; IMP:BHF-UCL.
DR   GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
DR   GO; GO:0042475; P:odontogenesis of dentin-containing tooth; ISS:BHF-UCL.
DR   GO; GO:0045760; P:positive regulation of action potential; ISS:BHF-UCL.
DR   GO; GO:0050679; P:positive regulation of epithelial cell proliferation; ISS:BHF-UCL.
DR   GO; GO:0010765; P:positive regulation of sodium ion transport; IDA:BHF-UCL.
DR   GO; GO:0060371; P:regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
DR   GO; GO:0060372; P:regulation of atrial cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
DR   GO; GO:0086004; P:regulation of cardiac muscle cell contraction; IMP:BHF-UCL.
DR   GO; GO:0002027; P:regulation of heart rate; IMP:UniProtKB.
DR   GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
DR   GO; GO:1902305; P:regulation of sodium ion transmembrane transport; IDA:BHF-UCL.
DR   GO; GO:0060373; P:regulation of ventricular cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
DR   GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
DR   GO; GO:0014894; P:response to denervation involved in regulation of muscle adaptation; ISS:BHF-UCL.
DR   GO; GO:0086015; P:SA node cell action potential; IMP:BHF-UCL.
DR   GO; GO:0035725; P:sodium ion transmembrane transport; IDA:UniProtKB.
DR   GO; GO:0006814; P:sodium ion transport; IDA:UniProtKB.
DR   GO; GO:0021537; P:telencephalon development; ISS:BHF-UCL.
DR   GO; GO:0086005; P:ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR008053; Na_channel_a5su.
DR   InterPro; IPR001696; Na_channel_asu.
DR   InterPro; IPR010526; Na_trans_assoc.
DR   InterPro; IPR024583; Na_trans_cytopl.
DR   Pfam; PF00520; Ion_trans; 4.
DR   Pfam; PF06512; Na_trans_assoc; 1.
DR   Pfam; PF11933; Na_trans_cytopl; 1.
DR   PRINTS; PR00170; NACHANNEL.
DR   PRINTS; PR01666; NACHANNEL5.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Atrial fibrillation;
KW   Brugada syndrome; Calmodulin-binding; Cardiomyopathy; Cell membrane;
KW   Complete proteome; Disease mutation; Disulfide bond; Glycoprotein;
KW   Ion channel; Ion transport; Long QT syndrome; Membrane; Methylation;
KW   Phosphoprotein; Polymorphism; Reference proteome; Repeat; Sodium;
KW   Sodium channel; Sodium transport; Transmembrane; Transmembrane helix;
KW   Transport; Ubl conjugation; Voltage-gated channel.
FT   CHAIN         1   2016       Sodium channel protein type 5 subunit
FT                                alpha.
FT                                /FTId=PRO_0000048497.
FT   TOPO_DOM      1    131       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    132    150       Helical; Name=S1 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    151    157       Extracellular. {ECO:0000305}.
FT   TRANSMEM    158    178       Helical; Name=S2 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    179    192       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    193    210       Helical; Name=S3 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    211    216       Extracellular. {ECO:0000305}.
FT   TRANSMEM    217    233       Helical; Name=S4 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    234    252       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    253    272       Helical; Name=S5 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    273    357       Extracellular. {ECO:0000305}.
FT   INTRAMEM    358    382       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    383    389       Extracellular. {ECO:0000305}.
FT   TRANSMEM    390    410       Helical; Name=S6 of repeat I.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    411    717       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    718    736       Helical; Name=S1 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    737    747       Extracellular. {ECO:0000305}.
FT   TRANSMEM    748    767       Helical; Name=S2 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    768    781       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    782    801       Helical; Name=S3 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    802    803       Extracellular. {ECO:0000305}.
FT   TRANSMEM    804    821       Helical; Name=S4 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    822    837       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM    838    856       Helical; Name=S5 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    857    883       Extracellular. {ECO:0000305}.
FT   INTRAMEM    884    904       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    905    917       Extracellular. {ECO:0000305}.
FT   TRANSMEM    918    938       Helical; Name=S6 of repeat II.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM    939   1206       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1207   1224       Helical; Name=S1 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1225   1237       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1238   1256       Helical; Name=S2 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1257   1270       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1271   1289       Helical; Name=S3 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1290   1297       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1298   1316       Helical; Name=S4 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1317   1333       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1334   1353       Helical; Name=S5 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1354   1405       Extracellular. {ECO:0000305}.
FT   INTRAMEM   1406   1427       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1428   1444       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1445   1466       Helical; Name=S6 of repeat III.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1467   1529       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1530   1547       Helical; Name=S1 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1548   1558       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1559   1577       Helical; Name=S2 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1578   1589       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1590   1607       Helical; Name=S3 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1608   1620       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1621   1637       Helical; Name=S4 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1638   1656       Cytoplasmic. {ECO:0000305}.
FT   TRANSMEM   1657   1674       Helical; Name=S5 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1675   1696       Extracellular. {ECO:0000305}.
FT   INTRAMEM   1697   1719       Pore-forming.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1720   1748       Extracellular. {ECO:0000305}.
FT   TRANSMEM   1749   1771       Helical; Name=S6 of repeat IV.
FT                                {ECO:0000250|UniProtKB:D0E0C2}.
FT   TOPO_DOM   1772   2016       Cytoplasmic. {ECO:0000305}.
FT   REPEAT      113    420       I. {ECO:0000305}.
FT   REPEAT      699    969       II. {ECO:0000305}.
FT   REPEAT     1187   1501       III. {ECO:0000305}.
FT   REPEAT     1510   1807       IV. {ECO:0000305}.
FT   DOMAIN     1901   1930       IQ.
FT   REGION     1839   1901       Interaction with FGF13.
FT                                {ECO:0000269|PubMed:22705208}.
FT   REGION     1974   1977       Interaction with NEDD4, NEDD4L and WWP2.
FT                                {ECO:0000269|PubMed:15548568}.
FT   MOD_RES      36     36       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES      38     38       Phosphothreonine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     457    457       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     460    460       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     483    483       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     484    484       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     486    486       Phosphothreonine.
FT                                {ECO:0000250|UniProtKB:P15389}.
FT   MOD_RES     497    497       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     510    510       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     513    513       Dimethylated arginine; alternate.
FT                                {ECO:0000269|PubMed:21726068}.
FT   MOD_RES     513    513       Omega-N-methylarginine; alternate.
FT                                {ECO:0000269|PubMed:21726068}.
FT   MOD_RES     526    526       Dimethylated arginine; alternate.
FT                                {ECO:0000269|PubMed:21726068}.
FT   MOD_RES     526    526       Omega-N-methylarginine; alternate.
FT                                {ECO:0000269|PubMed:21726068}.
FT   MOD_RES     539    539       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:Q9JJV9}.
FT   MOD_RES     571    571       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     664    664       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     667    667       Phosphoserine.
FT                                {ECO:0000269|PubMed:23092124}.
FT   MOD_RES     680    680       Dimethylated arginine; alternate.
FT                                {ECO:0000269|PubMed:21726068}.
FT   MOD_RES     680    680       Omega-N-methylarginine; alternate.
FT                                {ECO:0000269|PubMed:21726068}.
FT   MOD_RES    1503   1503       Phosphoserine; by PKC.
FT                                {ECO:0000305|PubMed:19666841}.
FT   CARBOHYD    214    214       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    283    283       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    288    288       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    291    291       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    318    318       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    328    328       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    740    740       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    803    803       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    864    864       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1365   1365       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1374   1374       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1380   1380       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1388   1388       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1736   1736       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    280    335       {ECO:0000250|UniProtKB:D0E0C2}.
FT   DISULFID    906    915       {ECO:0000250|UniProtKB:D0E0C2}.
FT   VAR_SEQ     206    211       TTEFVD -> VSENIK (in isoform 3, isoform
FT                                4, isoform 5 and isoform 6).
FT                                {ECO:0000303|PubMed:15489334,
FT                                ECO:0000303|PubMed:16115203,
FT                                ECO:0000303|Ref.6}.
FT                                /FTId=VSP_037477.
FT   VAR_SEQ    1076   1076       Missing (in isoform 2 and isoform 3).
FT                                {ECO:0000303|PubMed:12358675,
FT                                ECO:0000303|PubMed:12454206,
FT                                ECO:0000303|PubMed:14500339,
FT                                ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_037478.
FT   VAR_SEQ    1077   1130       Missing (in isoform 5).
FT                                {ECO:0000303|PubMed:16115203}.
FT                                /FTId=VSP_037479.
FT   VAR_SEQ    1416   1433       Missing (in isoform 6).
FT                                {ECO:0000303|Ref.6}.
FT                                /FTId=VSP_037480.
FT   VAR_SEQ    1573   1604       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_037481.
FT   VARIANT       9      9       G -> V (in LQT3; dbSNP:rs199473043).
FT                                {ECO:0000269|PubMed:16922724}.
FT                                /FTId=VAR_036660.
FT   VARIANT      18     18       R -> Q (in BRGDA1 and LQT3; unknown
FT                                pathological significance;
FT                                dbSNP:rs41311087).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074312.
FT   VARIANT      18     18       R -> W (rare variant; found in a patient
FT                                with long QT syndrome; unknown
FT                                pathological significance;
FT                                dbSNP:rs199473044).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_068325.
FT   VARIANT      27     27       R -> H (in BRGDA1 and LQT3;
FT                                dbSNP:rs199473045).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_026341.
FT   VARIANT      30     30       E -> G (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473551).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074695.
FT   VARIANT      34     34       R -> C (in dbSNP:rs6791924).
FT                                {ECO:0000269|PubMed:11997281,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026342.
FT   VARIANT      34     34       R -> H (in dbSNP:rs199473046).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074313.
FT   VARIANT      43     43       R -> Q (in LQT3; does not affect baseline
FT                                kinetics of sodium currents; causes an
FT                                unusual hyperpolarizing shift of the
FT                                activation kinetics after lidocaine
FT                                treatment; dbSNP:rs199473047).
FT                                {ECO:0000269|PubMed:18848812,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055159.
FT   VARIANT      48     48       E -> K (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473048).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074696.
FT   VARIANT      52     52       P -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473553).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074697.
FT   VARIANT      53     53       R -> Q (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473049).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074698.
FT   VARIANT      70     70       N -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473050).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074314.
FT   VARIANT      84     84       D -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473051).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074315.
FT   VARIANT      93     93       F -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473052).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074316.
FT   VARIANT      94     94       I -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473053).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074317.
FT   VARIANT      95     95       V -> I (in BRGDA1; dbSNP:rs199473054).
FT                                {ECO:0000269|PubMed:17081365}.
FT                                /FTId=VAR_055160.
FT   VARIANT     104    104       R -> G (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473055).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074699.
FT   VARIANT     104    104       R -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473554).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074318.
FT   VARIANT     104    104       R -> W (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473055).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074319.
FT   VARIANT     109    109       N -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473056).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074320.
FT   VARIANT     115    115       S -> G (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473057).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074700.
FT   VARIANT     121    121       R -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473058).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074321.
FT   VARIANT     121    121       R -> W (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473556).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074322.
FT   VARIANT     125    125       V -> L (in LQT3; dbSNP:rs199473059).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_068326.
FT   VARIANT     126    126       K -> E (in BRGDA1; dbSNP:rs185492581).
FT                                {ECO:0000269|PubMed:12051963,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026343.
FT   VARIANT     136    136       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473557).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074323.
FT   VARIANT     138    138       M -> I (in ATFB10; dbSNP:rs199473060).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055161.
FT   VARIANT     146    146       V -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473061).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074324.
FT   VARIANT     161    161       E -> K (in BRGDA1 and PFHB1A;
FT                                dbSNP:rs199473062).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026344.
FT   VARIANT     161    161       E -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473062).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074325.
FT   VARIANT     175    175       K -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473063).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074326.
FT   VARIANT     178    178       A -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473065).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074327.
FT   VARIANT     182    182       C -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473066).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074328.
FT   VARIANT     185    185       A -> V (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473067).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074329.
FT   VARIANT     187    187       T -> I (in BRGDA1; loss of function;
FT                                dbSNP:rs199473558).
FT                                {ECO:0000269|PubMed:16325048}.
FT                                /FTId=VAR_026345.
FT   VARIANT     204    204       A -> V (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473559).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074330.
FT   VARIANT     212    212       L -> P (in LQT3; dbSNP:rs199473070).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055162.
FT   VARIANT     212    212       L -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473070).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074331.
FT   VARIANT     216    216       S -> L (rare variant found in patients
FT                                with atrial fibrillation; unknown
FT                                pathological significance;
FT                                dbSNP:rs41276525).
FT                                {ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055163.
FT   VARIANT     220    220       T -> I (in SSS1 and BRGDA1;
FT                                dbSNP:rs45620037).
FT                                {ECO:0000269|PubMed:14523039,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017670.
FT   VARIANT     222    222       R -> Q (in BRGDA1 and LQT3;
FT                                dbSNP:rs45546039).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074332.
FT   VARIANT     223    223       V -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473560).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074333.
FT   VARIANT     225    225       R -> Q (in LQT3; dbSNP:rs199473071).
FT                                {ECO:0000269|PubMed:16922724}.
FT                                /FTId=VAR_036661.
FT   VARIANT     225    225       R -> W (in PFHB1A, BRGDA1 and LQT3;
FT                                dbSNP:rs199473072).
FT                                {ECO:0000269|PubMed:12574143,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055164.
FT   VARIANT     226    226       A -> V (in BRGDA1; dbSNP:rs199473561).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026346.
FT   VARIANT     230    230       I -> V (in BRGDA1; dbSNP:rs199473074).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026347.
FT   VARIANT     232    232       V -> I (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs45471994).
FT                                {ECO:0000269|PubMed:18599870,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055165.
FT   VARIANT     240    240       V -> M (in BRGDA1 and LQT3;
FT                                dbSNP:rs199473076).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074334.
FT   VARIANT     245    245       Q -> K (in LQT3; dbSNP:rs199473077).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068327.
FT   VARIANT     247    247       V -> L (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473078).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074701.
FT   VARIANT     270    270       Q -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473079).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074335.
FT   VARIANT     275    275       N -> K (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473080).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074702.
FT   VARIANT     276    276       L -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473081).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074336.
FT   VARIANT     278    278       H -> D (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473562).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074337.
FT   VARIANT     282    282       R -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473082).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074338.
FT   VARIANT     282    282       R -> H (in BRGDA1; dbSNP:rs199473083).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026348.
FT   VARIANT     286    286       A -> S (in dbSNP:rs61746118).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074339.
FT   VARIANT     289    289       G -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473084).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074703.
FT   VARIANT     291    291       N -> S (in dbSNP:rs199473563).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074340.
FT   VARIANT     294    294       V -> M (in BRGDA1; dbSNP:rs199473086).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026349.
FT   VARIANT     298    298       G -> S (in PFHB1A; also in irritable
FT                                bowel syndrome; results in reduction of
FT                                whole cell current density and a delay in
FT                                channel activation kinetics without a
FT                                change in single-channel conductance;
FT                                dbSNP:rs137854608).
FT                                {ECO:0000269|PubMed:11804990,
FT                                ECO:0000269|PubMed:19056759}.
FT                                /FTId=VAR_017671.
FT   VARIANT     299    299       L -> M (in dbSNP:rs199473087).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074341.
FT   VARIANT     300    300       V -> I (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473088).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074342.
FT   VARIANT     315    315       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473564).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074343.
FT   VARIANT     319    319       G -> S (in BRGDA1; dbSNP:rs199473090).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026350.
FT   VARIANT     320    320       T -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473091).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074344.
FT   VARIANT     325    325       L -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473092).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055166.
FT   VARIANT     336    336       P -> L (in BRGDA1; detected in a compound
FT                                heterozygote also carrying V-1660; the
FT                                presence of both mutations is necessary
FT                                for the phenotypic expression of the
FT                                disease; severe reduction of sodium
FT                                currents; dbSNP:rs199473093).
FT                                {ECO:0000269|PubMed:17075016,
FT                                ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|Ref.6}.
FT                                /FTId=VAR_055167.
FT   VARIANT     340    340       R -> W (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473094).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074704.
FT   VARIANT     351    351       G -> D (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473095).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074345.
FT   VARIANT     351    351       G -> V (in BRGDA1; 7-fold current
FT                                reduction; dbSNP:rs199473095).
FT                                {ECO:0000269|PubMed:12051963,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026351.
FT   VARIANT     353    353       T -> I (in BRGDA1; dbSNP:rs199473096).
FT                                {ECO:0000269|PubMed:17198989}.
FT                                /FTId=VAR_055168.
FT   VARIANT     356    356       D -> N (in BRGDA1; loss of function;
FT                                dbSNP:rs199473565).
FT                                {ECO:0000269|PubMed:16325048,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026352.
FT   VARIANT     367    367       R -> C (in BRGDA1 and LQT3; express no
FT                                current; dbSNP:rs28937318).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026353.
FT   VARIANT     367    367       R -> H (in BRGDA1; express no current;
FT                                dbSNP:rs28937318).
FT                                {ECO:0000269|PubMed:11823453,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017672.
FT   VARIANT     367    367       R -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs28937318).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074346.
FT   VARIANT     369    369       M -> K (in BRGDA1; dbSNP:rs199473098).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026354.
FT   VARIANT     370    370       T -> M (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473099).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074705.
FT   VARIANT     374    374       W -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473566).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074347.
FT   VARIANT     376    376       R -> C (in dbSNP:rs199473100).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074348.
FT   VARIANT     376    376       R -> H (in BRGDA1; unknown pathological
FT                                significance; also found in patients with
FT                                atrial fibrillation; dbSNP:rs199473101).
FT                                {ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055169.
FT   VARIANT     386    386       G -> E (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473567).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074349.
FT   VARIANT     386    386       G -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473102).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074350.
FT   VARIANT     393    393       Missing (in BRGDA1).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026355.
FT   VARIANT     396    396       V -> A (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473103).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074351.
FT   VARIANT     396    396       V -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473104).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074352.
FT   VARIANT     397    397       I -> T (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473105).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074706.
FT   VARIANT     404    404       L -> Q (in LQT3; dbSNP:rs199473107).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068328.
FT   VARIANT     406    406       N -> K (in LQT3; dbSNP:rs199473108).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055170.
FT   VARIANT     406    406       N -> S (in BRGDA1; dbSNP:rs199473568).
FT                                /FTId=VAR_055171.
FT   VARIANT     409    409       L -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473109).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074707.
FT   VARIANT     411    411       V -> M (in LQT3; dbSNP:rs72549410).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_068329.
FT   VARIANT     413    413       A -> E (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473569).
FT                                {ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_074708.
FT   VARIANT     413    413       A -> T (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473110).
FT                                {ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_074709.
FT   VARIANT     428    428       E -> K (in ATFB10; dbSNP:rs199473111).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055172.
FT   VARIANT     429    429       Missing (in LQT3; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074710.
FT   VARIANT     439    439       E -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473570).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074353.
FT   VARIANT     445    445       H -> D (in ATFB10; dbSNP:rs199473112).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055173.
FT   VARIANT     447    447       A -> G (in dbSNP:rs199473113).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074354.
FT   VARIANT     449    449       T -> A (in dbSNP:rs199473571).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074355.
FT   VARIANT     461    461       L -> V (in dbSNP:rs41313697).
FT                                {ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055174.
FT   VARIANT     462    462       E -> A (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473114).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074711.
FT   VARIANT     462    462       E -> K (in LQT3; dbSNP:rs199473572).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068330.
FT   VARIANT     470    470       N -> K (in ATFB10; dbSNP:rs199473115).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055175.
FT   VARIANT     475    475       R -> S (in dbSNP:rs199473116).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074356.
FT   VARIANT     481    481       R -> W (in dbSNP:rs144511230).
FT                                {ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055176.
FT   VARIANT     501    501       D -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473117).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074357.
FT   VARIANT     512    512       T -> I (in PFHB1A; voltage-dependent
FT                                activation and inactivation of the I-512
FT                                channel is shifted negatively by 8 to 9
FT                                mV and had enhanced slow activation and
FT                                slower recovery from inactivation
FT                                commpared to the wild-type channel; the
FT                                double mutant R-558/I-512 channel shows
FT                                that R-558 eliminates the negative shift
FT                                induced by I-512 but only partially
FT                                restores the kinetic abnormalities;
FT                                dbSNP:rs199473118).
FT                                {ECO:0000269|PubMed:12569159}.
FT                                /FTId=VAR_036662.
FT   VARIANT     514    514       G -> C (in BRGDA1 and PFHB1A;
FT                                dbSNP:rs137854606).
FT                                {ECO:0000269|PubMed:11234013,
FT                                ECO:0000269|PubMed:19251209}.
FT                                /FTId=VAR_017673.
FT   VARIANT     524    524       S -> Y (in dbSNP:rs41313691).
FT                                {ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_036663.
FT   VARIANT     526    526       R -> H (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs45627438).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074358.
FT   VARIANT     530    530       F -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473120).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074712.
FT   VARIANT     532    532       F -> C (in SIDS and BRGDA1;
FT                                dbSNP:rs199473573).
FT                                {ECO:0000269|PubMed:18596570,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055177.
FT   VARIANT     535    535       R -> Q (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473121).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074713.
FT   VARIANT     543    543       F -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473122).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074359.
FT   VARIANT     552    552       G -> R (in BRGDA1; dbSNP:rs3918389).
FT                                {ECO:0000269|PubMed:12358675,
FT                                ECO:0000269|PubMed:1309946,
FT                                ECO:0000269|PubMed:16616735,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026356.
FT   VARIANT     558    558       H -> R (polymorphism; channels properties
FT                                are similar to wild-type; the double
FT                                mutant R-558/I-512 channel shows that R-
FT                                558 eliminates the negative shift induced
FT                                by Ile-512 but only partially restores
FT                                the kinetic abnormalities; can modulate
FT                                the gating defects caused by Ala-2006 and
FT                                other mutations; dbSNP:rs1805124).
FT                                {ECO:0000269|PubMed:11997281,
FT                                ECO:0000269|PubMed:12051963,
FT                                ECO:0000269|PubMed:12454206,
FT                                ECO:0000269|PubMed:12569159,
FT                                ECO:0000269|PubMed:14500339,
FT                                ECO:0000269|PubMed:15489334,
FT                                ECO:0000269|PubMed:18368697,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:21109022,
FT                                ECO:0000269|PubMed:23085483}.
FT                                /FTId=VAR_008955.
FT   VARIANT     567    567       L -> Q (in BRGDA1; dbSNP:rs199473124).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026357.
FT   VARIANT     568    568       R -> H (in dbSNP:rs199473125).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074360.
FT   VARIANT     569    569       R -> W (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473576).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074714.
FT   VARIANT     571    571       S -> I (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473126).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074715.
FT   VARIANT     572    572       A -> D (in LQT3 and ATFB10;
FT                                dbSNP:rs36210423).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055178.
FT   VARIANT     572    572       A -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs184442491).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074716.
FT   VARIANT     572    572       A -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs36210423).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074717.
FT   VARIANT     573    573       Q -> E (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473127).
FT                                {ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_074718.
FT   VARIANT     579    579       G -> R (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473128).
FT                                {ECO:0000269|PubMed:16414944,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074361.
FT   VARIANT     586    587       Missing (in LQT3; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055179.
FT   VARIANT     592    592       N -> K (in dbSNP:rs199473130).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074362.
FT   VARIANT     596    596       D -> G (in dbSNP:rs199473131).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074363.
FT   VARIANT     601    601       V -> A (in dbSNP:rs199473132).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074364.
FT   VARIANT     615    615       G -> E (in LQT3 and BRGDA1; drug-induced
FT                                LQT syndrome; dbSNP:rs12720452).
FT                                {ECO:0000269|PubMed:11997281,
FT                                ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026358.
FT   VARIANT     618    618       L -> F (found in patients with drug-
FT                                induced LQT syndrome; also found in
FT                                patients with atrial fibrillation;
FT                                unknown pathological significance;
FT                                dbSNP:rs45488304).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_047360.
FT   VARIANT     619    619       L -> F (in LQT3 and BRGDA1;
FT                                dbSNP:rs199473133).
FT                                {ECO:0000269|PubMed:11997281,
FT                                ECO:0000269|PubMed:12673799,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_015682.
FT   VARIANT     620    620       R -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473577).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074365.
FT   VARIANT     632    632       T -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473134).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074366.
FT   VARIANT     637    637       P -> L (in LQT3; dbSNP:rs199473135).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068331.
FT   VARIANT     638    638       G -> D (in dbSNP:rs199473578).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074367.
FT   VARIANT     639    639       G -> R (in LQT3; dbSNP:rs199473136).
FT                                {ECO:0000269|PubMed:16922724,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_036664.
FT   VARIANT     640    640       P -> A (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473137).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074368.
FT   VARIANT     647    647       A -> D (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs185638763).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074369.
FT   VARIANT     648    648       P -> L (in LQT3 and BRGDA1;
FT                                dbSNP:rs45609733).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_068332.
FT   VARIANT     654    654       E -> K (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473138).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074719.
FT   VARIANT     655    655       E -> K (in ATFB10; dbSNP:rs199473579).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055180.
FT   VARIANT     656    656       P -> L (in dbSNP:rs41313681).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074370.
FT   VARIANT     661    661       R -> W (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473139).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074371.
FT   VARIANT     672    672       A -> T (in dbSNP:rs199473140).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074372.
FT   VARIANT     673    673       L -> P (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473141).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074720.
FT   VARIANT     680    680       R -> H (in LQT3; dbSNP:rs199473142).
FT                                /FTId=VAR_055181.
FT   VARIANT     681    681       H -> P (in BRGDA1; dbSNP:rs199473143).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026359.
FT   VARIANT     683    683       C -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473144).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074373.
FT   VARIANT     689    689       R -> C (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473580).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074721.
FT   VARIANT     689    689       R -> H (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473145).
FT                                {ECO:0000269|PubMed:16414944,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074374.
FT   VARIANT     692    692       Q -> K (in dbSNP:rs45553235).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074375.
FT   VARIANT     701    701       P -> L (in BRGDA1 and LQT3;
FT                                dbSNP:rs199473147).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074376.
FT   VARIANT     705    705       S -> F (in dbSNP:rs199473148).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074377.
FT   VARIANT     717    717       P -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473149).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074378.
FT   VARIANT     731    731       T -> I (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473150).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074722.
FT   VARIANT     735    735       A -> E (in BRGDA1; dbSNP:rs137854611).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026360.
FT   VARIANT     735    735       A -> V (in BRGDA1 and SSS1; expresses
FT                                currents with steady state activation
FT                                voltage shifted to more positive
FT                                potentials and exhibit reduced sodium
FT                                channel current at the end of phase I of
FT                                the action potential; dbSNP:rs137854611).
FT                                {ECO:0000269|PubMed:11823453,
FT                                ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:22795782}.
FT                                /FTId=VAR_017674.
FT   VARIANT     746    746       E -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473582).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074379.
FT   VARIANT     750    750       Q -> R (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473152).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074723.
FT   VARIANT     752    752       G -> R (in BRGDA1 and PFHB1A;
FT                                dbSNP:rs199473153).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026361.
FT   VARIANT     758    758       G -> E (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473154).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074380.
FT   VARIANT     764    764       M -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473156).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074381.
FT   VARIANT     772    772       D -> N (in BRGDA1 and LQT3;
FT                                dbSNP:rs199473157).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074382.
FT   VARIANT     773    773       P -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473158).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074383.
FT   VARIANT     789    789       V -> I (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473159).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074384.
FT   VARIANT     808    808       R -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473160).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074385.
FT   VARIANT     812    812       L -> Q (in BRGDA1; decreased protein
FT                                abundance; retained intracellularly;
FT                                decreased voltage-gated sodium channel
FT                                activity; hyperpolarizing shift of the
FT                                voltage dependence of inactivation
FT                                leading to reduced sodium window current;
FT                                no dominant negative effect).
FT                                {ECO:0000269|PubMed:26279430}.
FT                                /FTId=VAR_076555.
FT   VARIANT     814    814       R -> Q (in BRGDA1; dbSNP:rs199473584).
FT                                /FTId=VAR_055182.
FT   VARIANT     816    816       F -> Y (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473162).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074724.
FT   VARIANT     817    817       K -> E (in BRGDA1; no effect on
FT                                localization to the plasma membrane;
FT                                decreased voltage-gated sodium channel
FT                                activity; shift in the voltage dependence
FT                                of activation and changed recovery from
FT                                inactivation).
FT                                {ECO:0000269|PubMed:26776555}.
FT                                /FTId=VAR_076556.
FT   VARIANT     839    839       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473164).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074386.
FT   VARIANT     848    848       I -> F (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473166).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074725.
FT   VARIANT     851    851       F -> L (in BRGDA1; dbSNP:rs199473586).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026362.
FT   VARIANT     867    867       E -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473167).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074387.
FT   VARIANT     878    878       R -> C (in BRGDA1; dbSNP:rs199473168).
FT                                {ECO:0000269|PubMed:18616619,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055183.
FT   VARIANT     878    878       R -> H (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473587).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074388.
FT   VARIANT     886    886       H -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473169).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074389.
FT   VARIANT     892    892       F -> I (in BRGDA1; dbSNP:rs199473170).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026363.
FT   VARIANT     893    893       R -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473171).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074390.
FT   VARIANT     893    893       R -> H (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473172).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074391.
FT   VARIANT     896    896       C -> S (in BRGDA1; dbSNP:rs199473173).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026364.
FT   VARIANT     901    901       E -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473174).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074392.
FT   VARIANT     910    910       S -> L (in BRGDA1; dbSNP:rs199473175).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026365.
FT   VARIANT     915    915       C -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473588).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074393.
FT   VARIANT     917    917       L -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473176).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074394.
FT   VARIANT     924    924       V -> I (in dbSNP:rs199473177).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074395.
FT   VARIANT     927    927       N -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473589).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074396.
FT   VARIANT     928    928       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473178).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074397.
FT   VARIANT     935    935       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473179).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074398.
FT   VARIANT     941    941       S -> N (in LQT3; also in SIDS;
FT                                dbSNP:rs137854605).
FT                                {ECO:0000269|PubMed:10911008}.
FT                                /FTId=VAR_017675.
FT   VARIANT     960    960       Q -> K (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473590).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074726.
FT   VARIANT     965    965       R -> C (in BRGDA1; steady state
FT                                inactivation shifted to a more negative
FT                                potential; slower recovery from
FT                                inactivation; dbSNP:rs199473180).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:19272188,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026366.
FT   VARIANT     965    965       R -> H (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473181).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074399.
FT   VARIANT     965    965       R -> L (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473181).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074727.
FT   VARIANT     971    971       R -> C (in LQT3; dbSNP:rs61737825).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068333.
FT   VARIANT     981    981       C -> F (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473591).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074728.
FT   VARIANT     986    986       R -> Q (in dbSNP:rs41313667).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074400.
FT   VARIANT     997    997       A -> S (in LQT3; also found in patients
FT                                with atrial fibrillation; sodium current
FT                                characterized by slower decay and a 2- to
FT                                3-fold increase in late sodium current;
FT                                dbSNP:rs137854609).
FT                                {ECO:0000269|PubMed:11710892,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_017676.
FT   VARIANT     997    997       A -> T (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs137854609).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074401.
FT   VARIANT    1004   1004       C -> R (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473183).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074729.
FT   VARIANT    1016   1016       T -> M (in dbSNP:rs199473185).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074402.
FT   VARIANT    1023   1023       R -> H (in BRGDA1; dbSNP:rs199473592).
FT                                /FTId=VAR_055184.
FT   VARIANT    1027   1027       R -> Q (in dbSNP:rs763891399).
FT                                {ECO:0000269|PubMed:1309946,
FT                                ECO:0000269|PubMed:16616735,
FT                                ECO:0000269|Ref.6}.
FT                                /FTId=VAR_026367.
FT   VARIANT    1040   1040       G -> R (in dbSNP:rs199473186).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074403.
FT   VARIANT    1041   1041       D -> N (in dbSNP:rs45491996).
FT                                /FTId=VAR_047361.
FT   VARIANT    1053   1053       E -> K (in BRGDA1, ATFB10 and LQT3;
FT                                abolishes binding to ANK3 and also
FT                                prevents accumulation of SCN5A at cell
FT                                surface sites in ventricular
FT                                cardiomyocytes; dbSNP:rs137854617).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:15579534,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026368.
FT   VARIANT    1055   1055       D -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473593).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074404.
FT   VARIANT    1069   1069       T -> M (in LQT3; dbSNP:rs199473187).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_068334.
FT   VARIANT    1079   1079       S -> Y (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473188).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074405.
FT   VARIANT    1082   1082       V -> A (in dbSNP:rs199473189).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074406.
FT   VARIANT    1084   1084       G -> S (in SIDS; may be a rare
FT                                polymorphism; dbSNP:rs199473190).
FT                                {ECO:0000269|PubMed:18596570}.
FT                                /FTId=VAR_055185.
FT   VARIANT    1090   1090       P -> L (in dbSNP:rs1805125).
FT                                {ECO:0000269|PubMed:18368697,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_014464.
FT   VARIANT    1098   1098       V -> L (in dbSNP:rs199473191).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074407.
FT   VARIANT    1100   1100       A -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473192).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074730.
FT   VARIANT    1103   1103       S -> Y (polymorphism; may confer
FT                                susceptibility to acquired arrhythmia;
FT                                dbSNP:rs7626962).
FT                                {ECO:0000269|PubMed:12193783,
FT                                ECO:0000269|PubMed:12471205,
FT                                ECO:0000269|PubMed:14500339,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017677.
FT   VARIANT    1107   1107       E -> K (in dbSNP:rs199473193).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074408.
FT   VARIANT    1113   1113       A -> V (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473194).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074409.
FT   VARIANT    1114   1114       D -> N (in LQT3; dbSNP:rs199473195).
FT                                {ECO:0000269|PubMed:10973849,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_009935.
FT   VARIANT    1116   1116       R -> W (in dbSNP:rs199473196).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074410.
FT   VARIANT    1131   1131       T -> I (in ATFB10; dbSNP:rs199473197).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055186.
FT   VARIANT    1140   1140       S -> T (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473199).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074411.
FT   VARIANT    1166   1166       D -> N (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473594).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074731.
FT   VARIANT    1180   1180       A -> V (in dbSNP:rs41310765).
FT                                /FTId=VAR_047362.
FT   VARIANT    1193   1193       R -> Q (in BRGDA1 and LQT3; also found in
FT                                patients with atrial fibrillation;
FT                                accelerates the inactivation of the
FT                                sodium channel current and exhibit
FT                                reduced sodium channel current at the end
FT                                of phase I of the action potential;
FT                                dbSNP:rs41261344).
FT                                {ECO:0000269|PubMed:11823453,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017678.
FT   VARIANT    1199   1199       Y -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473202).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074732.
FT   VARIANT    1212   1212       Missing (in LQT3; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074733.
FT   VARIANT    1219   1219       S -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473597).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074412.
FT   VARIANT    1225   1225       E -> K (in BRGDA1 and LQT3;
FT                                dbSNP:rs199473204).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026369.
FT   VARIANT    1228   1228       Y -> H (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473205).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074413.
FT   VARIANT    1231   1231       E -> K (in LQT3; dbSNP:rs199473598).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068335.
FT   VARIANT    1232   1232       R -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473206).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074414.
FT   VARIANT    1232   1232       R -> W (in BRGDA1 and PFHB1A;
FT                                dbSNP:rs199473207).
FT                                {ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:9521325}.
FT                                /FTId=VAR_017679.
FT   VARIANT    1236   1236       K -> N (in BRGDA1; dbSNP:rs199473208).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026370.
FT   VARIANT    1239   1239       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473210).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074415.
FT   VARIANT    1240   1240       E -> Q (in BRGDA1; dbSNP:rs199473211).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026371.
FT   VARIANT    1243   1243       D -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473599).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074416.
FT   VARIANT    1249   1249       V -> D (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473213).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074417.
FT   VARIANT    1250   1250       F -> L (in LQT3; drug-induced LQT
FT                                syndrome; dbSNP:rs45589741).
FT                                {ECO:0000269|PubMed:11997281}.
FT                                /FTId=VAR_026372.
FT   VARIANT    1251   1251       V -> M (in dbSNP:rs199473600).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074418.
FT   VARIANT    1253   1253       E -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473214).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074419.
FT   VARIANT    1262   1262       G -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs137854616).
FT                                {ECO:0000269|PubMed:15338453,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_036665.
FT   VARIANT    1271   1271       W -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473601).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074420.
FT   VARIANT    1275   1275       D -> N (in CMD1E, BRGDA1, PFHB1A and
FT                                ATRST1; in familial atrial standstill is
FT                                found in association with polymorphisms
FT                                in the regulatory region of GJA5;
FT                                dbSNP:rs137854618).
FT                                {ECO:0000269|PubMed:12522116,
FT                                ECO:0000269|PubMed:15466643,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026373.
FT   VARIANT    1283   1283       L -> M (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473216).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074734.
FT   VARIANT    1288   1288       A -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473217).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074421.
FT   VARIANT    1293   1293       F -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs41311127).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026374.
FT   VARIANT    1295   1295       E -> K (in LQT3; causes significant
FT                                positive shifts in the half-maximal
FT                                voltage of steady-state inactivation and
FT                                activation; dbSNP:rs199473218).
FT                                {ECO:0000269|PubMed:11304498}.
FT                                /FTId=VAR_055187.
FT   VARIANT    1298   1298       P -> L (in SSS1; dbSNP:rs28937319).
FT                                {ECO:0000269|PubMed:14523039}.
FT                                /FTId=VAR_017680.
FT   VARIANT    1304   1304       T -> M (in LQT3; dbSNP:rs199473603).
FT                                {ECO:0000269|PubMed:10508990,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_008956.
FT   VARIANT    1308   1308       L -> F (polymorphism; associated with I-
FT                                232 in a case of lidocaine-induced
FT                                Brugada syndrome; dbSNP:rs41313031).
FT                                {ECO:0000269|PubMed:18599870,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055188.
FT   VARIANT    1311   1311       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473219).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074422.
FT   VARIANT    1319   1319       G -> V (in BRGDA1; dbSNP:rs199473220).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026375.
FT   VARIANT    1323   1323       V -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473221).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074423.
FT   VARIANT    1325   1325       N -> S (in LQT3; dbSNP:rs28937317).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_001577.
FT   VARIANT    1326   1326       A -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473222).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074735.
FT   VARIANT    1330   1330       A -> P (in LQT3; dbSNP:rs199473224).
FT                                /FTId=VAR_055189.
FT   VARIANT    1330   1330       A -> T (in LQT3; dbSNP:rs199473224).
FT                                /FTId=VAR_055190.
FT   VARIANT    1332   1332       P -> L (in LQT3 and BRGDA1; unknown
FT                                pathological significance;
FT                                dbSNP:rs199473225).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055191.
FT   VARIANT    1333   1333       S -> Y (in LQT3 and SIDS;
FT                                dbSNP:rs199473604).
FT                                {ECO:0000269|PubMed:16922724,
FT                                ECO:0000269|PubMed:19302788}.
FT                                /FTId=VAR_036666.
FT   VARIANT    1334   1334       I -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473226).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074736.
FT   VARIANT    1338   1338       L -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473227).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074737.
FT   VARIANT    1344   1344       F -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473228).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074424.
FT   VARIANT    1344   1344       F -> S (in BRGDA1; dbSNP:rs199473229).
FT                                {ECO:0000269|PubMed:16616735}.
FT                                /FTId=VAR_026376.
FT   VARIANT    1346   1346       L -> I (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473230).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074425.
FT   VARIANT    1346   1346       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473231).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074426.
FT   VARIANT    1351   1351       M -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473232).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074427.
FT   VARIANT    1353   1353       V -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473233).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074428.
FT   VARIANT    1358   1358       G -> W (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473234).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074429.
FT   VARIANT    1359   1359       K -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473235).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074430.
FT   VARIANT    1360   1360       F -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473236).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074431.
FT   VARIANT    1363   1363       C -> Y (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473237).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074432.
FT   VARIANT    1382   1382       S -> I (in BRGDA1; dbSNP:rs199473608).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026377.
FT   VARIANT    1405   1405       V -> L (in BRGDA1; dbSNP:rs199473239).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026378.
FT   VARIANT    1405   1405       V -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473239).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074433.
FT   VARIANT    1406   1406       G -> E (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473609).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074434.
FT   VARIANT    1406   1406       G -> R (in BRGDA1; dbSNP:rs199473240).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026379.
FT   VARIANT    1408   1408       G -> R (in SSS1 and BRGDA1;
FT                                dbSNP:rs28936971).
FT                                {ECO:0000269|PubMed:11748104,
FT                                ECO:0000269|PubMed:14523039,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017681.
FT   VARIANT    1409   1409       Y -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473610).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074435.
FT   VARIANT    1412   1412       L -> F (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473241).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074436.
FT   VARIANT    1419   1419       K -> E (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473242).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074437.
FT   VARIANT    1420   1420       G -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473611).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074438.
FT   VARIANT    1427   1427       A -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473244).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074439.
FT   VARIANT    1428   1428       A -> V (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473612).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074440.
FT   VARIANT    1432   1432       R -> G (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473245).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055192.
FT   VARIANT    1432   1432       R -> S (in BRGDA1 and LQT3;
FT                                dbSNP:rs199473246).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074441.
FT   VARIANT    1433   1433       G -> V (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473247).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074442.
FT   VARIANT    1438   1438       P -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473248).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055193.
FT   VARIANT    1441   1441       E -> Q (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473249).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074443.
FT   VARIANT    1448   1448       I -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473250).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074444.
FT   VARIANT    1448   1448       I -> T (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473251).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074445.
FT   VARIANT    1449   1449       Y -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473613).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074446.
FT   VARIANT    1451   1451       V -> D (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473252).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074447.
FT   VARIANT    1458   1458       S -> Y (in LQT3; dbSNP:rs199473253).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068336.
FT   VARIANT    1463   1463       N -> Y (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473614).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074448.
FT   VARIANT    1468   1468       V -> F (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473254).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074449.
FT   VARIANT    1472   1472       N -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473255).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074738.
FT   VARIANT    1473   1473       F -> C (in LQT3; dbSNP:rs199473256).
FT                                {ECO:0000269|PubMed:18060054,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055194.
FT   VARIANT    1479   1479       Missing (in BRGDA1).
FT                                {ECO:0000269|PubMed:12106943}.
FT                                /FTId=VAR_026380.
FT   VARIANT    1481   1481       G -> E (in LQT3; dbSNP:rs199473257).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_068337.
FT   VARIANT    1486   1486       F -> L (in LQT3; dbSNP:rs199473615).
FT                                /FTId=VAR_055195.
FT   VARIANT    1487   1487       M -> L (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473258).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074739.
FT   VARIANT    1488   1488       T -> R (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473259).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074740.
FT   VARIANT    1489   1489       E -> D (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473616).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074741.
FT   VARIANT    1493   1493       K -> R (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473260).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074742.
FT   VARIANT    1494   1494       Y -> N (in BRGDA1; dbSNP:rs199473261).
FT                                {ECO:0000269|PubMed:18341814}.
FT                                /FTId=VAR_055196.
FT   VARIANT    1495   1495       Y -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473262).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074743.
FT   VARIANT    1498   1498       M -> T (found in a patient with long QT
FT                                syndrome; unknown pathological
FT                                significance; dbSNP:rs199473263).
FT                                {ECO:0000269|PubMed:16115203,
FT                                ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_074744.
FT   VARIANT    1498   1498       M -> V (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473264).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074745.
FT   VARIANT    1500   1500       K -> N (in dbSNP:rs199473265).
FT                                {ECO:0000269|PubMed:10508990}.
FT                                /FTId=VAR_008957.
FT   VARIANT    1500   1500       Missing (in BRGDA1).
FT                                {ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_026381.
FT   VARIANT    1501   1501       L -> V (in LQT3 and BRGDA1;
FT                                dbSNP:rs199473266).
FT                                {ECO:0000269|PubMed:10973849,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_009936.
FT   VARIANT    1502   1502       G -> S (in BRGDA1; dbSNP:rs199473267).
FT                                {ECO:0000269|PubMed:12106943}.
FT                                /FTId=VAR_026382.
FT   VARIANT    1505   1507       Missing (in LQT3).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:7651517}.
FT                                /FTId=VAR_001576.
FT   VARIANT    1505   1505       K -> N (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473268).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074746.
FT   VARIANT    1507   1509       Missing (in LQT3).
FT                                /FTId=VAR_055197.
FT   VARIANT    1512   1512       R -> W (in BRGDA1; significantly affects
FT                                cardiac sodium channel characteristics;
FT                                associated with an increase in inward
FT                                sodium current during the action
FT                                potential upstroke; dbSNP:rs137854602).
FT                                {ECO:0000269|PubMed:10690282,
FT                                ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017682.
FT   VARIANT    1521   1521       I -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473617).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074450.
FT   VARIANT    1525   1525       V -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473269).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074451.
FT   VARIANT    1527   1527       K -> R (in BRGDA1; asymptomatic patient;
FT                                associated with P-1569;
FT                                dbSNP:rs199473270).
FT                                {ECO:0000269|PubMed:15851320}.
FT                                /FTId=VAR_055198.
FT   VARIANT    1532   1532       V -> I (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473618).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074747.
FT   VARIANT    1548   1548       E -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473271).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074452.
FT   VARIANT    1560   1560       L -> F (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473619).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074748.
FT   VARIANT    1569   1569       A -> P (in BRGDA1; asymptomatic patient;
FT                                associated with R-1527;
FT                                dbSNP:rs199473273).
FT                                {ECO:0000269|PubMed:15851320}.
FT                                /FTId=VAR_055199.
FT   VARIANT    1571   1571       F -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473274).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074453.
FT   VARIANT    1574   1574       E -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473620).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074454.
FT   VARIANT    1582   1582       L -> P (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473275).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074455.
FT   VARIANT    1583   1583       R -> C (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs45514691).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074456.
FT   VARIANT    1583   1583       R -> H (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473621).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074457.
FT   VARIANT    1593   1593       I -> M (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473276).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074749.
FT   VARIANT    1594   1594       F -> S (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473277).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074750.
FT   VARIANT    1595   1595       D -> N (in PFHB1A; significant defect in
FT                                the kinetics of fast-channel inactivation
FT                                distinct from mutations reported in LQT3;
FT                                dbSNP:rs137854607).
FT                                {ECO:0000269|PubMed:11804990}.
FT                                /FTId=VAR_017683.
FT   VARIANT    1596   1596       F -> I (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473278).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074751.
FT   VARIANT    1604   1604       V -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473280).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074458.
FT   VARIANT    1609   1609       S -> W (in LQT3; dbSNP:rs199473622).
FT                                {ECO:0000269|PubMed:16922724}.
FT                                /FTId=VAR_036667.
FT   VARIANT    1613   1613       Q -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473281).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074459.
FT   VARIANT    1617   1617       Missing (in LQT3 and BRGDA1).
FT                                {ECO:0000269|PubMed:17081365,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055200.
FT   VARIANT    1620   1620       T -> K (in LQT3 and PFHB1A;
FT                                dbSNP:rs199473282).
FT                                /FTId=VAR_055201.
FT   VARIANT    1620   1620       T -> M (in BRGDA1; arrhythmogenicity
FT                                revealed only at temperatures approaching
FT                                the physiologic range;
FT                                dbSNP:rs199473282).
FT                                {ECO:0000269|PubMed:10532948,
FT                                ECO:0000269|PubMed:10618304,
FT                                ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:9521325}.
FT                                /FTId=VAR_017684.
FT   VARIANT    1623   1623       R -> L (in LQT3; dbSNP:rs137854600).
FT                                {ECO:0000269|PubMed:10973849,
FT                                ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_009937.
FT   VARIANT    1623   1623       R -> Q (in LQT3 and BRGDA1;
FT                                dbSNP:rs137854600).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:9506831,
FT                                ECO:0000269|Ref.32}.
FT                                /FTId=VAR_001578.
FT   VARIANT    1626   1626       R -> H (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473283).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074752.
FT   VARIANT    1626   1626       R -> P (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473283).
FT                                {ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_055202.
FT   VARIANT    1629   1629       R -> Q (in BRGDA1; changed voltage-gated
FT                                sodium channel activity; no difference in
FT                                current density but changed inactivation
FT                                kinetics and prolonged recovery from
FT                                inactivation; dbSNP:rs199473623).
FT                                {ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:24167619}.
FT                                /FTId=VAR_074460.
FT   VARIANT    1642   1642       G -> E (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473624).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074461.
FT   VARIANT    1644   1644       R -> C (in LQT3 and BRGDA1;
FT                                dbSNP:rs199473287).
FT                                {ECO:0000269|PubMed:16414944,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055203.
FT   VARIANT    1644   1644       R -> H (in LQT3; dbSNP:rs28937316).
FT                                {ECO:0000269|PubMed:10973849,
FT                                ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_001579.
FT   VARIANT    1645   1645       T -> M (in LQT3; dbSNP:rs199473288).
FT                                {ECO:0000269|PubMed:10508990}.
FT                                /FTId=VAR_008958.
FT   VARIANT    1649   1649       A -> V (in BRGDA1; dbSNP:rs199473289).
FT                                {ECO:0000269|PubMed:17081365}.
FT                                /FTId=VAR_055204.
FT   VARIANT    1650   1650       L -> F (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473290).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074753.
FT   VARIANT    1652   1652       M -> R (in LQT3; dbSNP:rs199473291).
FT                                /FTId=VAR_055205.
FT   VARIANT    1652   1652       M -> T (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473291).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074754.
FT   VARIANT    1660   1660       I -> V (in BRGDA1 and LQT3; the BRGDA1
FT                                patient is a compound heterozygote also
FT                                carrying L-336; the presence of both
FT                                mutations is necessary for phenotypic
FT                                expression of the disease in this
FT                                patient; complete loss of sodium currents
FT                                due to defective channel trafficking to
FT                                the plasma membrane; dbSNP:rs199473625).
FT                                {ECO:0000269|PubMed:16414944,
FT                                ECO:0000269|PubMed:17075016,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055206.
FT   VARIANT    1661   1661       G -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473292).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074462.
FT   VARIANT    1667   1667       V -> I (in LQT3 and BRGDA1;
FT                                dbSNP:rs199473293).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_068338.
FT   VARIANT    1672   1672       S -> Y (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473626).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074463.
FT   VARIANT    1680   1680       A -> T (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473294).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074464.
FT   VARIANT    1690   1690       D -> N (in BRGDA1; decreased localization
FT                                to the plasma membrane; decreased
FT                                voltage-gated sodium channel activity;
FT                                dominant negative effect; no effect on
FT                                voltage dependence for activation and
FT                                inactivation).
FT                                {ECO:0000269|PubMed:23085483}.
FT                                /FTId=VAR_076557.
FT   VARIANT    1698   1698       A -> T (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473295).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074465.
FT   VARIANT    1705   1705       F -> S (in SIDS; causes a hyperpolarizing
FT                                shift of steady-state inactivation and
FT                                delayed recovery from inactivation;
FT                                dbSNP:rs199473627).
FT                                {ECO:0000269|PubMed:18596570}.
FT                                /FTId=VAR_055207.
FT   VARIANT    1709   1709       T -> M (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473297).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074466.
FT   VARIANT    1709   1709       T -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473297).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074467.
FT   VARIANT    1710   1710       S -> L (in VF1; dbSNP:rs137854604).
FT                                {ECO:0000269|PubMed:10940383}.
FT                                /FTId=VAR_017685.
FT   VARIANT    1712   1712       G -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473298).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074468.
FT   VARIANT    1714   1714       D -> G (in BRGDA1; strong decrease of
FT                                current density; does not affect ion
FT                                selectivity properties;
FT                                dbSNP:rs199473628).
FT                                {ECO:0000269|PubMed:16266370,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026383.
FT   VARIANT    1722   1722       N -> D (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473299).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074469.
FT   VARIANT    1723   1723       T -> N (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473300).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074755.
FT   VARIANT    1728   1728       C -> R (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473302).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074470.
FT   VARIANT    1728   1728       C -> W (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs193922726).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074471.
FT   VARIANT    1739   1739       R -> W (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473303).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074756.
FT   VARIANT    1740   1740       G -> R (in BRGDA1; dbSNP:rs199473304).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026384.
FT   VARIANT    1743   1743       G -> E (in BRGDA1; dbSNP:rs199473629).
FT                                {ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026385.
FT   VARIANT    1743   1743       G -> R (in BRGDA1; yields nearly
FT                                undetectable currents in transfected
FT                                cells; dbSNP:rs199473305).
FT                                {ECO:0000269|PubMed:15023552,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055208.
FT   VARIANT    1748   1748       G -> D (in BRGDA1; decreased localization
FT                                to the plasma membrane; decreased
FT                                voltage-gated sodium channel activity;
FT                                dominant negative effect; changed voltage
FT                                dependence for activation and
FT                                inactivation).
FT                                {ECO:0000269|PubMed:23085483}.
FT                                /FTId=VAR_076558.
FT   VARIANT    1761   1761       L -> F (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473307).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074757.
FT   VARIANT    1761   1761       L -> H (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473308).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074758.
FT   VARIANT    1763   1763       V -> M (in LQT3; dbSNP:rs199473631).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055209.
FT   VARIANT    1764   1764       V -> F (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473309).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074472.
FT   VARIANT    1766   1766       M -> L (in LQT3; affects protein
FT                                trafficking; dbSNP:rs199473310).
FT                                {ECO:0000269|PubMed:12454206,
FT                                ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_055210.
FT   VARIANT    1767   1767       Y -> C (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473632).
FT                                {ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_074759.
FT   VARIANT    1768   1768       I -> V (in LQT3; increases the rate of
FT                                recovery from inactivation and the
FT                                channel availability, observed as a
FT                                positive shift of the steady-state
FT                                inactivation curve; dbSNP:rs199473311).
FT                                {ECO:0000269|PubMed:12209021}.
FT                                /FTId=VAR_055211.
FT   VARIANT    1777   1777       V -> M (in LQT3; dbSNP:rs199473314).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_055212.
FT   VARIANT    1779   1779       T -> M (in LQT3 and BRGDA1;
FT                                dbSNP:rs199473634).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_068339.
FT   VARIANT    1784   1784       E -> K (in LQT3 and BRGDA1;
FT                                dbSNP:rs137854601).
FT                                {ECO:0000269|PubMed:10377081,
FT                                ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:18451998,
FT                                ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_008959.
FT   VARIANT    1787   1787       S -> N (in dbSNP:rs199473316).
FT                                {ECO:0000269|PubMed:10973849,
FT                                ECO:0000269|PubMed:16414944,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_009938.
FT   VARIANT    1790   1790       D -> G (in LQT3; dbSNP:rs199473317).
FT                                {ECO:0000269|PubMed:16414944,
FT                                ECO:0000269|PubMed:9686753}.
FT                                /FTId=VAR_001580.
FT   VARIANT    1792   1792       D -> N (in SSS1; dbSNP:rs727504495).
FT                                {ECO:0000269|PubMed:22795782}.
FT                                /FTId=VAR_068475.
FT   VARIANT    1795   1795       Y -> C (in LQT3; also in a family
FT                                associating LQT syndrome and atrial
FT                                fibrillation; slows the onset of
FT                                activation, but does not cause a marked
FT                                negative shift in the voltage dependence
FT                                of inactivation or affect the kinetics of
FT                                the recovery from inactivation; increases
FT                                the expression of sustained Na(+) channel
FT                                activity and promotes entrance into an
FT                                intermediate or slowly developing
FT                                inactivated state; dbSNP:rs137854614).
FT                                {ECO:0000269|PubMed:11410597,
FT                                ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:18929331,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_019123.
FT   VARIANT    1795   1795       Y -> H (in BRGDA1; accelerates the onset
FT                                of activation and causes a marked
FT                                negative shift in the voltage dependence
FT                                of inactivation; does not affect the
FT                                kinetics of the recovery from
FT                                inactivation; increases the expression of
FT                                sustained Na(+) channel activity and
FT                                promotes entrance into an intermediate or
FT                                slowly developing inactivated state;
FT                                dbSNP:rs137854615).
FT                                {ECO:0000269|PubMed:11410597,
FT                                ECO:0000269|PubMed:11901046}.
FT                                /FTId=VAR_019124.
FT   VARIANT    1795   1795       Y -> YD (in LQT3 and BRGDA1; 7.3-mV
FT                                negative shift of the steady-state
FT                                inactivation curve and 8.1-mV positive
FT                                shift of the steady-state activation
FT                                curve; may reduced sodium current during
FT                                the upstroke of the action potential).
FT                                {ECO:0000269|PubMed:10590249,
FT                                ECO:0000269|PubMed:11889015}.
FT                                /FTId=VAR_017686.
FT   VARIANT    1819   1819       D -> N (in LQT3; digenic; the patient
FT                                also carries mutation G-100 on KCNH2;
FT                                dbSNP:rs137854619).
FT                                {ECO:0000269|PubMed:16922724}.
FT                                /FTId=VAR_036668.
FT   VARIANT    1825   1825       L -> P (in LQT3; drug-induced LQT
FT                                syndrome; dbSNP:rs79299226).
FT                                /FTId=VAR_055213.
FT   VARIANT    1826   1826       R -> C (in ATFB10; dbSNP:rs199473635).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055214.
FT   VARIANT    1826   1826       R -> H (in LQT3; sodium current
FT                                characterized by slower decay and a 2- to
FT                                3-fold increase in late sodium current;
FT                                dbSNP:rs137854610).
FT                                {ECO:0000269|PubMed:11710892,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_017687.
FT   VARIANT    1832   1832       Q -> E (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473320).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074473.
FT   VARIANT    1836   1836       I -> T (in dbSNP:rs45563942).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074474.
FT   VARIANT    1839   1839       D -> G (in LQT3; dbSNP:rs199473321).
FT                                {ECO:0000269|PubMed:10627139,
FT                                ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_001581.
FT   VARIANT    1849   1849       H -> R (in LQT3; decreased interaction
FT                                with FGF12, FGF13 and FGF14; increased
FT                                voltage-gated sodium channel activity;
FT                                altered inactivation; dbSNP:rs794728898).
FT                                {ECO:0000269|PubMed:26392562}.
FT                                /FTId=VAR_076559.
FT   VARIANT    1850   1850       C -> S (in BRGDA1; decreased I(Na)
FT                                density; shift of the steady-state
FT                                inactivation towards negative potentials;
FT                                dbSNP:rs199473322).
FT                                {ECO:0000269|PubMed:18252757}.
FT                                /FTId=VAR_055215.
FT   VARIANT    1861   1861       V -> I (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473636).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074475.
FT   VARIANT    1872   1872       K -> N (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473323).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074476.
FT   VARIANT    1875   1875       M -> T (in atrial fibrillation;
FT                                pronounced depolarized shift of the
FT                                voltage dependence of steady-state
FT                                inactivation; no persistent sodium
FT                                current; dbSNP:rs199473324).
FT                                {ECO:0000269|PubMed:18929244}.
FT                                /FTId=VAR_055216.
FT   VARIANT    1897   1897       R -> W (in LQT3; unknown pathological
FT                                significance; dbSNP:rs45465995).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074760.
FT   VARIANT    1901   1901       E -> K (in dbSNP:rs199473325).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074477.
FT   VARIANT    1901   1901       E -> Q (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473325).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074761.
FT   VARIANT    1903   1903       V -> L (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs864622270).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074478.
FT   VARIANT    1904   1904       S -> L (in LQT3; promotes late sodium
FT                                currents by increasing the propensity of
FT                                the channel to reopen during prolonged
FT                                depolarization; dbSNP:rs150264233).
FT                                {ECO:0000269|PubMed:18708744}.
FT                                /FTId=VAR_055217.
FT   VARIANT    1909   1909       Q -> R (in LQT3; dbSNP:rs199473326).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068340.
FT   VARIANT    1913   1913       R -> H (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473327).
FT                                {ECO:0000269|PubMed:16414944}.
FT                                /FTId=VAR_074762.
FT   VARIANT    1919   1919       R -> C (in dbSNP:rs199473328).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074479.
FT   VARIANT    1924   1924       A -> T (in BRGDA1; significantly affect
FT                                cardiac sodium channel characteristics;
FT                                associated with an increase in inward
FT                                sodium current during the action
FT                                potential upstroke; dbSNP:rs137854603).
FT                                {ECO:0000269|PubMed:10690282,
FT                                ECO:0000269|PubMed:12106943,
FT                                ECO:0000269|PubMed:19251209,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_017688.
FT   VARIANT    1935   1935       G -> S (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473637).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055218.
FT   VARIANT    1938   1938       E -> K (in BRGDA1; unknown pathological
FT                                significance; dbSNP:rs199473329).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074480.
FT   VARIANT    1949   1949       A -> S (in LQT3; dbSNP:rs199473330).
FT                                {ECO:0000269|PubMed:15840476}.
FT                                /FTId=VAR_068341.
FT   VARIANT    1951   1951       V -> L (in BRGDA1 and LQT3; also found in
FT                                patients with atrial fibrillation;
FT                                unknown pathological significance;
FT                                dbSNP:rs41315493).
FT                                {ECO:0000269|PubMed:11901046,
FT                                ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_026386.
FT   VARIANT    1951   1951       V -> M (in ATFB10; dbSNP:rs41315493).
FT                                {ECO:0000269|PubMed:18378609}.
FT                                /FTId=VAR_055219.
FT   VARIANT    1958   1958       R -> Q (found in a patient with long QT
FT                                syndrome; unknown pathological
FT                                significance; dbSNP:rs199473331).
FT                                {ECO:0000269|PubMed:15840476,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_068342.
FT   VARIANT    1962   1962       P -> L (in dbSNP:rs199473638).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074481.
FT   VARIANT    1968   1968       I -> M (in dbSNP:rs199473333).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074482.
FT   VARIANT    1968   1968       I -> S (in BRGDA1; dbSNP:rs199473639).
FT                                /FTId=VAR_055220.
FT   VARIANT    1977   1977       Y -> N (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473334).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074763.
FT   VARIANT    1987   1987       N -> K (in ATFB10; dbSNP:rs199473335).
FT                                {ECO:0000269|PubMed:18088563}.
FT                                /FTId=VAR_065865.
FT   VARIANT    1991   1991       R -> Q (in dbSNP:rs199473336).
FT                                {ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074483.
FT   VARIANT    2004   2004       F -> L (in LQT3 and BRGDA1; also found in
FT                                patients with atrial fibrillation;
FT                                results in channels with decreased peak
FT                                and persistent current amplitudes;
FT                                increased closed-state and slow
FT                                inactivation; decelerated recovery from
FT                                inactivation; dbSNP:rs41311117).
FT                                {ECO:0000269|PubMed:18378609,
FT                                ECO:0000269|PubMed:18456723,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_055221.
FT   VARIANT    2004   2004       F -> V (in BRGDA1 and LQT3;
FT                                dbSNP:rs41311117).
FT                                {ECO:0000269|PubMed:19716085,
FT                                ECO:0000269|PubMed:20129283}.
FT                                /FTId=VAR_074484.
FT   VARIANT    2006   2006       P -> A (found in a patient with long QT
FT                                syndrome; unknown pathological
FT                                significance; causes an increase of
FT                                persistent sodium current and produces a
FT                                depolarizing shift in voltage dependence
FT                                of inactivation; dbSNP:rs45489199).
FT                                {ECO:0000269|PubMed:20129283,
FT                                ECO:0000269|PubMed:21109022}.
FT                                /FTId=VAR_055222.
FT   VARIANT    2012   2012       R -> C (in LQT3; unknown pathological
FT                                significance; dbSNP:rs199473640).
FT                                {ECO:0000269|PubMed:19716085}.
FT                                /FTId=VAR_074764.
FT   MUTAGEN    1476   1476       Q->K: Induces accelerated recovery from
FT                                channel fast inactivation.
FT                                {ECO:0000269|PubMed:16054936}.
FT   MUTAGEN    1610   1610       D->A: Complete loss of channel inhibition
FT                                by the spider toxin Jingzhaotoxin-I.
FT                                {ECO:0000269|PubMed:26721415}.
FT   MUTAGEN    1610   1610       D->R: High decrease in affinity to the
FT                                sea anemone toxin anthopleurin-B.
FT                                {ECO:0000269|PubMed:24898004}.
FT   MUTAGEN    1614   1614       K->A: 4.2-fold decrease of channel
FT                                inhibition potency by the spider toxin
FT                                Jingzhaotoxin-I.
FT                                {ECO:0000269|PubMed:26721415}.
FT   MUTAGEN    1802   1804       DPE->APA: Abolishes calcium response on
FT                                channel inactivation.
FT                                {ECO:0000269|PubMed:19074138}.
FT   MUTAGEN    1974   1974       P->A: Strongly reduces interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1975   1975       P->A: Strongly reduces interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1976   1976       S->A: Strongly reduces interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1977   1977       Y->A: Strongly reduces interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15217910,
FT                                ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1978   1978       D->A: No effect on interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1979   1979       S->A: No effect on interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1980   1980       V->A: No effect on interaction with
FT                                NEDD4, NEDD4L or WWP2.
FT                                {ECO:0000269|PubMed:15217910,
FT                                ECO:0000269|PubMed:15548568}.
FT   MUTAGEN    1980   1980       V->D,R: Strongly reduces interaction with
FT                                NEDD4L. {ECO:0000269|PubMed:15217910,
FT                                ECO:0000269|PubMed:15548568}.
FT   CONFLICT     91     91       K -> R (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT     96     96       L -> P (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    120    120       I -> V (in Ref. 1; AAA58644).
FT                                {ECO:0000305}.
FT   CONFLICT    162    162       Y -> H (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    180    180       G -> A (in Ref. 1; AAA58644).
FT                                {ECO:0000305}.
FT   CONFLICT    181    181       F -> S (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    191    191       D -> G (in Ref. 5; BAD12084/BAD12085 and
FT                                6; ABR15763/ABR15764). {ECO:0000305}.
FT   CONFLICT    196    196       L -> P (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    215    215       V -> L (in Ref. 5; BAD12084/BAD12085, 6;
FT                                ABR15763/ABR15764 and 9; AAI44622/
FT                                AAI40814). {ECO:0000305}.
FT   CONFLICT    234    234       S -> P (in Ref. 5; BAD12084/BAD12085, 6;
FT                                ABR15763/ABR15764 and 9; AAI44622/
FT                                AAI40814). {ECO:0000305}.
FT   CONFLICT    280    280       C -> R (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    290    290       T -> I (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    516    516       S -> N (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    608    608       D -> N (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    618    618       L -> I (in Ref. 4; AAO91669).
FT                                {ECO:0000305}.
FT   CONFLICT    653    653       F -> V (in Ref. 5; BAD12084/BAD12085).
FT                                {ECO:0000305}.
FT   CONFLICT    918    918       V -> G (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT    987    987       Q -> H (in Ref. 1; AAA58644, 5; BAD12084/
FT                                BAD12085 and 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT   1085   1085       G -> W (in Ref. 1; AAA58644 and 5;
FT                                BAD12084). {ECO:0000305}.
FT   CONFLICT   1087   1087       E -> R (in Ref. 1; AAA58644 and 5;
FT                                BAD12084). {ECO:0000305}.
FT   CONFLICT   1088   1088       A -> G (in Ref. 1; AAA58644 and 5;
FT                                BAD12084). {ECO:0000305}.
FT   CONFLICT   1342   1342       L -> H (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT   1479   1479       K -> T (in Ref. 5; BAD12084/BAD12085).
FT                                {ECO:0000305}.
FT   CONFLICT   1480   1481       LG -> IR (in Ref. 7; ABQ01244).
FT                                {ECO:0000305}.
FT   CONFLICT   1616   1616       F -> S (in Ref. 10; BAD92103).
FT                                {ECO:0000305}.
FT   CONFLICT   1657   1657       L -> P (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   CONFLICT   1850   1850       C -> R (in Ref. 6; ABR15763/ABR15764).
FT                                {ECO:0000305}.
FT   HELIX      1491   1500       {ECO:0000244|PDB:4DJC}.
FT   HELIX      1516   1526       {ECO:0000244|PDB:5DBR}.
FT   HELIX      1788   1801       {ECO:0000244|PDB:4DCK}.
FT   STRAND     1807   1810       {ECO:0000244|PDB:4DCK}.
FT   HELIX      1811   1813       {ECO:0000244|PDB:4DCK}.
FT   HELIX      1814   1820       {ECO:0000244|PDB:4DCK}.
FT   TURN       1823   1825       {ECO:0000244|PDB:4DCK}.
FT   HELIX      1832   1837       {ECO:0000244|PDB:4DCK}.
FT   STRAND     1841   1843       {ECO:0000244|PDB:4DCK}.
FT   TURN       1844   1846       {ECO:0000244|PDB:4DCK}.
FT   STRAND     1847   1849       {ECO:0000244|PDB:4DCK}.
FT   HELIX      1850   1862       {ECO:0000244|PDB:4DCK}.
FT   HELIX      1866   1882       {ECO:0000244|PDB:4DCK}.
FT   HELIX      1886   1888       {ECO:0000244|PDB:4DCK}.
FT   STRAND     1891   1894       {ECO:0000244|PDB:4OVN}.
FT   HELIX      1896   1926       {ECO:0000244|PDB:4DCK}.
SQ   SEQUENCE   2016 AA;  226940 MW;  841E3A365931190B CRC64;
     MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA
     SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI
     RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG
     FCLHAFTFLR DPWNWLDFSV IIMAYTTEFV DLGNVSALRT FRVLRALKTI SVISGLKTIV
     GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV
     WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW
     AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN
     QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK
     RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE
     ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV
     VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ
     RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD
     LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG
     WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG
     NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI
     ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ
     LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP
     PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ
     PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS
     TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH
     IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA
     YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM
     RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN
     KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW
     EYNLYMYIYF VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK
     LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD DQSPEKINIL
     AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI LSIVGTVLSD IIQKYFFSPT
     LFRVIRLARI GRILRLIRGA KGIRTLLFAL MMSLPALFNI GLLLFLVMFI YSIFGMANFA
     YVKWEAGIDD MFNFQTFANS MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG
     DCGSPAVGIL FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK
     FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC MDILFAFTKR
     VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH EEVSAMVIQR AFRRHLLQRS
     LKHASFLFRQ QAGSGLSEED APEREGLIAY VMSENFSRPL GPPSSSSISS TSFPPSYDSV
     TRATSDNLQV RGSDYSHSED LADFPPSPDR DRESIV
//
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