GenomeNet

Database: UniProt
Entry: S3TC2_HUMAN
LinkDB: S3TC2_HUMAN
Original site: S3TC2_HUMAN 
ID   S3TC2_HUMAN             Reviewed;        1288 AA.
AC   Q8TF17; B3KWE5; Q14CC0; Q14CF5; Q9H8I5;
DT   13-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT   13-APR-2004, sequence version 2.
DT   24-JAN-2024, entry version 179.
DE   RecName: Full=SH3 domain and tetratricopeptide repeat-containing protein 2;
GN   Name=SH3TC2; Synonyms=KIAA1985; ORFNames=PP12494;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANTS
RP   CMT4C GLN-529; LYS-657 AND CYS-658.
RC   TISSUE=Sciatic nerve;
RX   PubMed=14574644; DOI=10.1086/379525;
RA   Senderek J., Bergmann C., Stendel C., Kirfel J., Verpoorten N.,
RA   De Jonghe P., Timmerman V., Chrast R., Verheijen M.H.G., Lemke G.,
RA   Battaloglu E., Parman Y., Erdem S., Tan E., Topaloglu H., Hahn A.,
RA   Mueller-Felber W., Rizzuto N., Fabrizi G.M., Stuhrmann M.,
RA   Rudnik-Schoeneborn S., Zuechner S., Schroeder J.M., Buchheim E., Straub V.,
RA   Klepper J., Huehne K., Rautenstrauss B., Buettner R., Nelis E., Zerres K.;
RT   "Mutations in a gene encoding a novel SH3/TPR domain protein cause
RT   autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.";
RL   Am. J. Hum. Genet. 73:1106-1119(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC   TISSUE=Hippocampus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX   PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA   Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA   Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA   Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT   "Large-scale cDNA transfection screening for genes related to cancer
RT   development and progression.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15372022; DOI=10.1038/nature02919;
RA   Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA   Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA   She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA   Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA   Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA   Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA   Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA   Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA   Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA   Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA   Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA   Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT   "The DNA sequence and comparative analysis of human chromosome 5.";
RL   Nature 431:268-274(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), AND VARIANT
RP   SER-468.
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 project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 334-1288 (ISOFORM 1), AND VARIANT
RP   SER-468.
RC   TISSUE=Brain;
RX   PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA   Nagase T., Kikuno R., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XXII. The
RT   complete sequences of 50 new cDNA clones which code for large proteins.";
RL   DNA Res. 8:319-327(2001).
RN   [8]
RP   VARIANT MNMN HIS-169.
RX   PubMed=20220177; DOI=10.1056/nejmoa0908094;
RA   Lupski J.R., Reid J.G., Gonzaga-Jauregui C., Rio Deiros D., Chen D.C.,
RA   Nazareth L., Bainbridge M., Dinh H., Jing C., Wheeler D.A., McGuire A.L.,
RA   Zhang F., Stankiewicz P., Halperin J.J., Yang C., Gehman C., Guo D.,
RA   Irikat R.K., Tom W., Fantin N.J., Muzny D.M., Gibbs R.A.;
RT   "Whole-genome sequencing in a patient with Charcot-Marie-Tooth
RT   neuropathy.";
RL   N. Engl. J. Med. 362:1181-1191(2010).
RN   [9]
RP   VARIANTS CMT4C 867-GLN--LEU-1288 DEL AND ASP-1217.
RX   PubMed=34193129; DOI=10.1186/s12920-021-01019-5;
RA   Kanwal S., Choi Y.J., Lim S.O., Choi H.J., Park J.H., Nuzhat R., Khan A.,
RA   Perveen S., Choi B.O., Chung K.W.;
RT   "Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth
RT   disease.";
RL   BMC Med. Genomics 14:174-174(2021).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC       Name=1;
CC         IsoId=Q8TF17-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TF17-2; Sequence=VSP_009884, VSP_009885;
CC       Name=3;
CC         IsoId=Q8TF17-3; Sequence=VSP_009884, VSP_009885, VSP_009886;
CC       Name=4;
CC         IsoId=Q8TF17-4; Sequence=VSP_009881, VSP_009882, VSP_009883;
CC       Name=5;
CC         IsoId=Q8TF17-5; Sequence=VSP_054499;
CC   -!- TISSUE SPECIFICITY: Strongly expressed in brain and spinal cord.
CC       Expressed at equal level in spinal cord and sciatic nerve. Weakly
CC       expressed in striated muscle. {ECO:0000269|PubMed:14574644}.
CC   -!- DISEASE: Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]: A
CC       recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder
CC       of the peripheral nervous system, characterized by progressive weakness
CC       and atrophy, initially of the peroneal muscles and later of the distal
CC       muscles of the arms. Charcot-Marie-Tooth disease is classified in two
CC       main groups on the basis of electrophysiologic properties and
CC       histopathology: primary peripheral demyelinating neuropathies
CC       (designated CMT1 when they are dominantly inherited) and primary
CC       peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are
CC       characterized by severely reduced nerve conduction velocities (less
CC       than 38 m/sec), segmental demyelination and remyelination with onion
CC       bulb formations on nerve biopsy, slowly progressive distal muscle
CC       atrophy and weakness, absent deep tendon reflexes, and hollow feet. By
CC       convention autosomal recessive forms of demyelinating Charcot-Marie-
CC       Tooth disease are designated CMT4. CMT4C is characterized by onset in
CC       childhood, early-onset scoliosis and a distinct Schwann cell pathology.
CC       {ECO:0000269|PubMed:14574644, ECO:0000269|PubMed:34193129}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: A
CC       disease characterized by median nerve mononeuropathy at the wrist. The
CC       clinical presentation ranges from a mild phenotype, consistent with
CC       carpal tunnel syndrome, to a severe median nerve mononeuropathy at the
CC       wrist associated with evidence of a more widespread axonal
CC       polyneuropathy. The latter phenotype is similar to that of patients
CC       with hereditary neuropathy with liability to pressure palsies.
CC       {ECO:0000269|PubMed:20220177}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC       URL="https://uantwerpen.vib.be/CMTMutations";
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DR   EMBL; AY341075; AAR03497.1; -; mRNA.
DR   EMBL; AK124854; BAG54107.1; -; mRNA.
DR   EMBL; AK127248; BAC86899.1; -; mRNA.
DR   EMBL; AK023667; BAB14631.1; -; mRNA.
DR   EMBL; AF370410; AAQ15246.1; -; mRNA.
DR   EMBL; AC011364; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC116312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471062; EAW61796.1; -; Genomic_DNA.
DR   EMBL; BC113879; AAI13880.1; -; mRNA.
DR   EMBL; BC114486; AAI14487.1; -; mRNA.
DR   EMBL; AB075865; BAB85571.1; -; mRNA.
DR   CCDS; CCDS4293.1; -. [Q8TF17-1]
DR   RefSeq; NP_078853.2; NM_024577.3. [Q8TF17-1]
DR   AlphaFoldDB; Q8TF17; -.
DR   STRING; 9606.ENSP00000423660; -.
DR   iPTMnet; Q8TF17; -.
DR   PhosphoSitePlus; Q8TF17; -.
DR   BioMuta; SH3TC2; -.
DR   DMDM; 46396469; -.
DR   EPD; Q8TF17; -.
DR   jPOST; Q8TF17; -.
DR   MassIVE; Q8TF17; -.
DR   PaxDb; 9606-ENSP00000423660; -.
DR   PeptideAtlas; Q8TF17; -.
DR   ProteomicsDB; 60324; -.
DR   ProteomicsDB; 74536; -. [Q8TF17-1]
DR   ProteomicsDB; 74539; -. [Q8TF17-4]
DR   Antibodypedia; 49222; 86 antibodies from 17 providers.
DR   DNASU; 79628; -.
DR   Ensembl; ENST00000512049.5; ENSP00000421860.1; ENSG00000169247.14. [Q8TF17-5]
DR   Ensembl; ENST00000515425.6; ENSP00000423660.1; ENSG00000169247.14. [Q8TF17-1]
DR   GeneID; 79628; -.
DR   KEGG; hsa:79628; -.
DR   MANE-Select; ENST00000515425.6; ENSP00000423660.1; NM_024577.4; NP_078853.2.
DR   UCSC; uc003lpu.4; human. [Q8TF17-1]
DR   AGR; HGNC:29427; -.
DR   CTD; 79628; -.
DR   DisGeNET; 79628; -.
DR   GeneCards; SH3TC2; -.
DR   GeneReviews; SH3TC2; -.
DR   HGNC; HGNC:29427; SH3TC2.
DR   HPA; ENSG00000169247; Tissue enhanced (retina, testis).
DR   MalaCards; SH3TC2; -.
DR   MIM; 601596; phenotype.
DR   MIM; 608206; gene.
DR   MIM; 613353; phenotype.
DR   neXtProt; NX_Q8TF17; -.
DR   OpenTargets; ENSG00000169247; -.
DR   Orphanet; 99949; Charcot-Marie-Tooth disease type 4C.
DR   PharmGKB; PA134951912; -.
DR   VEuPathDB; HostDB:ENSG00000169247; -.
DR   eggNOG; ENOG502R9YA; Eukaryota.
DR   GeneTree; ENSGT00530000063812; -.
DR   HOGENOM; CLU_1739912_0_0_1; -.
DR   InParanoid; Q8TF17; -.
DR   OMA; HLETMYL; -.
DR   OrthoDB; 5355140at2759; -.
DR   PhylomeDB; Q8TF17; -.
DR   TreeFam; TF333167; -.
DR   PathwayCommons; Q8TF17; -.
DR   BioGRID-ORCS; 79628; 11 hits in 1144 CRISPR screens.
DR   ChiTaRS; SH3TC2; human.
DR   GeneWiki; SH3TC2; -.
DR   GenomeRNAi; 79628; -.
DR   Pharos; Q8TF17; Tbio.
DR   PRO; PR:Q8TF17; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   RNAct; Q8TF17; Protein.
DR   Bgee; ENSG00000169247; Expressed in corpus callosum and 110 other cell types or tissues.
DR   ExpressionAtlas; Q8TF17; baseline and differential.
DR   Genevisible; Q8TF17; HS.
DR   GO; GO:0031410; C:cytoplasmic vesicle; IEA:Ensembl.
DR   GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR   GO; GO:0032287; P:peripheral nervous system myelin maintenance; IEA:Ensembl.
DR   GO; GO:1901184; P:regulation of ERBB signaling pathway; IBA:GO_Central.
DR   GO; GO:0033157; P:regulation of intracellular protein transport; IBA:GO_Central.
DR   Gene3D; 2.30.30.40; SH3 Domains; 1.
DR   Gene3D; 1.25.40.10; Tetratricopeptide repeat domain; 2.
DR   InterPro; IPR036028; SH3-like_dom_sf.
DR   InterPro; IPR001452; SH3_domain.
DR   InterPro; IPR042772; SH3TC1/SH3TC2.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR019734; TPR_repeat.
DR   PANTHER; PTHR22647:SF2; SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN 2; 1.
DR   PANTHER; PTHR22647; SH3 DOMAIN AND TETRATRICOPEPTIDE REPEATS CONTAINING PROTEIN; 1.
DR   Pfam; PF00018; SH3_1; 1.
DR   SMART; SM00326; SH3; 1.
DR   SMART; SM00028; TPR; 4.
DR   SUPFAM; SSF50044; SH3-domain; 1.
DR   SUPFAM; SSF48452; TPR-like; 3.
DR   PROSITE; PS50002; SH3; 2.
PE   1: Evidence at protein level;
KW   Alternative splicing; Charcot-Marie-Tooth disease; Disease variant;
KW   Neurodegeneration; Neuropathy; Reference proteome; Repeat; SH3 domain;
KW   TPR repeat.
FT   CHAIN           1..1288
FT                   /note="SH3 domain and tetratricopeptide repeat-containing
FT                   protein 2"
FT                   /id="PRO_0000106356"
FT   DOMAIN          176..240
FT                   /note="SH3 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT   DOMAIN          268..331
FT                   /note="SH3 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT   REPEAT          528..561
FT                   /note="TPR 1"
FT   REPEAT          757..790
FT                   /note="TPR 2"
FT   REPEAT          836..869
FT                   /note="TPR 3"
FT   REPEAT          1001..1037
FT                   /note="TPR 4"
FT   REPEAT          1084..1118
FT                   /note="TPR 5"
FT   REPEAT          1119..1152
FT                   /note="TPR 6"
FT   REPEAT          1166..1199
FT                   /note="TPR 7"
FT   REPEAT          1210..1244
FT                   /note="TPR 8"
FT   REGION          386..405
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          410..444
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        413..433
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..1138
FT                   /note="Missing (in isoform 2 and isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15498874"
FT                   /id="VSP_009884"
FT   VAR_SEQ         1..453
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_009881"
FT   VAR_SEQ         128..134
FT                   /note="Missing (in isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_054499"
FT   VAR_SEQ         959..1049
FT                   /note="QLQATKSLCHFYSSVSPNPEACITYHEHWLALAQQLRDREMEGRLLESLGQL
FT                   YRNLNTARSLRRSLTCIKESLRIFIDLGETDKAAEAWLG -> KYVPCCWEAIERSVGS
FT                   SFIHFLSQVISFMSLLCVQVSFRPPNPSAISTALCPQTLRHASPTMSTGWPWLSNSGTG
FT                   RWKEGCWSPWGSFIGT (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_009882"
FT   VAR_SEQ         1050..1288
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_009883"
FT   VAR_SEQ         1139..1159
FT                   /note="LEGYEKALEFATLAARLSTVT -> MSEQMMQSVGCRISLSVFQFL (in
FT                   isoform 2 and isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15498874"
FT                   /id="VSP_009885"
FT   VAR_SEQ         1226..1288
FT                   /note="DAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNICQSPLWHSRPSGCSSER
FT                   ARWLSGGGLAL -> VRARLPRFPDSHHPTILLPDSKTMRSLCGGAEKTRVPR (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15498874"
FT                   /id="VSP_009886"
FT   VARIANT         169
FT                   /note="Y -> H (in MNMN; dbSNP:rs80359890)"
FT                   /evidence="ECO:0000269|PubMed:20220177"
FT                   /id="VAR_064421"
FT   VARIANT         171
FT                   /note="G -> E (in dbSNP:rs17722293)"
FT                   /id="VAR_052622"
FT   VARIANT         468
FT                   /note="A -> S (in dbSNP:rs6875902)"
FT                   /evidence="ECO:0000269|PubMed:11853319,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_018267"
FT   VARIANT         529
FT                   /note="R -> Q (in CMT4C; dbSNP:rs863224454)"
FT                   /evidence="ECO:0000269|PubMed:14574644"
FT                   /id="VAR_018268"
FT   VARIANT         657
FT                   /note="E -> K (in CMT4C; dbSNP:rs80338925)"
FT                   /evidence="ECO:0000269|PubMed:14574644"
FT                   /id="VAR_018269"
FT   VARIANT         658
FT                   /note="R -> C (in CMT4C; dbSNP:rs80338926)"
FT                   /evidence="ECO:0000269|PubMed:14574644"
FT                   /id="VAR_018270"
FT   VARIANT         696
FT                   /note="H -> R (in dbSNP:rs17109261)"
FT                   /id="VAR_052623"
FT   VARIANT         867..1288
FT                   /note="Missing (in CMT4C)"
FT                   /evidence="ECO:0000269|PubMed:34193129"
FT                   /id="VAR_087587"
FT   VARIANT         1217
FT                   /note="G -> D (in CMT4C; uncertain significance;
FT                   dbSNP:rs758669363)"
FT                   /evidence="ECO:0000269|PubMed:34193129"
FT                   /id="VAR_087588"
FT   CONFLICT        334
FT                   /note="M -> R (in Ref. 7; BAB85571)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1158
FT                   /note="V -> I (in Ref. 7; BAB85571)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1288 AA;  144777 MW;  0E7C1B87480207B4 CRC64;
     MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS
     RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW
     KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL VEDTEIQVSV DDKHLETIYL GLLIQEGHFF
     CRALCSVTPP AEKEGECLTL CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL
     PFHQWFLKNY PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF
     VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL ALGSDKQTEC
     SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK EVRPGRAWEE HQAVGSRQSS
     SSEDSSLEEE LLSATSDSYR LPEPDDLDDP ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA
     DHFKSLYDFS FSFLTSSFYS FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR
     KVKLSQARVY FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA
     CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE EVLPFAERLQ
     LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS AQGMSLPIWQ VHLVLQNTTK
     LLGFPSPGWG EVSALACPML RQALAACEEL ADRSTQRALC LILSKVYLEH RSPDGAIHYL
     SQALVLGQLL GEQESFESSL CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN
     LLGLALQGEG RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL
     QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG LRHRHLKSQL
     QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME GRLLESLGQL YRNLNTARSL
     RRSLTCIKES LRIFIDLGET DKAAEAWLGA GRLHYLMQED ELVELCLQAA IQTALKSEEP
     LLALKLYEEA GDVFFNGTRH RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE
     GYEKALEFAT LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL
     QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ DTIRSRLDNI
     CQSPLWHSRP SGCSSERARW LSGGGLAL
//
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