GenomeNet

Database: UniProt
Entry: Q8WXI3
LinkDB: Q8WXI3
Original site: Q8WXI3 
ID   ASB10_HUMAN             Reviewed;         467 AA.
AC   Q8WXI3; A0AVH0; Q6ZUL6;
DT   10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT   20-FEB-2007, sequence version 2.
DT   27-MAR-2024, entry version 175.
DE   RecName: Full=Ankyrin repeat and SOCS box protein 10;
DE            Short=ASB-10;
GN   Name=ASB10;
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 2).
RA   Kile B.T., Hilton D.J., Nicola N.A.;
RL   Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC   TISSUE=Skeletal muscle;
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 GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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   [5]
RP   VARIANTS GLC1F SER-48; GLU-65; MET-67; HIS-72; GLN-94; GLU-97; CYS-183;
RP   VAL-197; LEU-207; HIS-272; LEU-295; THR-320; GLN-332; TYR-356; HIS-360 AND
RP   GLY-440, VARIANTS GLC1F SER-19; SER-32 AND GLN-39 (ISOFORM 3), VARIANTS
RP   VAL-88; TYR-91; VAL-172; TRP-189; GLY-237; CYS-304; MET-329; CYS-372;
RP   THR-402 AND CYS-453, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=22156576; DOI=10.1093/hmg/ddr572;
RA   Pasutto F., Keller K.E., Weisschuh N., Sticht H., Samples J.R., Yang Y.F.,
RA   Zenkel M., Schlotzer-Schrehardt U., Mardin C.Y., Frezzotti P., Edmunds B.,
RA   Kramer P.L., Gramer E., Reis A., Acott T.S., Wirtz M.K.;
RT   "Variants in ASB10 are associated with open-angle glaucoma.";
RL   Hum. Mol. Genet. 21:1336-1349(2012).
CC   -!- FUNCTION: May be a substrate-recognition component of a SCF-like ECS
CC       (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex
CC       which mediates the ubiquitination and subsequent proteasomal
CC       degradation of target proteins. {ECO:0000250}.
CC   -!- PATHWAY: Protein modification; protein ubiquitination.
CC   -!- INTERACTION:
CC       Q8WXI3; P80188: LCN2; NbExp=3; IntAct=EBI-3923154, EBI-11911016;
CC       Q8WXI3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-3923154, EBI-16439278;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22156576}. Nucleus
CC       {ECO:0000269|PubMed:22156576}. Note=In the ciliary body, it is detected
CC       in the cytoplasm and perinuclear region of the pigmented ciliary
CC       epithelial layer. In the retina, it is detected in the nuclei of
CC       retinal ganglion cells.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8WXI3-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8WXI3-2; Sequence=VSP_023357;
CC       Name=3;
CC         IsoId=Q8WXI3-3; Sequence=VSP_038997;
CC   -!- TISSUE SPECIFICITY: Expressed in the eye. The highest expression is
CC       observed in the iris, with moderate levels in the trabecular meshwork
CC       (TM), the lamina, and the optic nerve; slightly lower levels in the
CC       ciliary body, retina, and choroid; and very low levels in the lens.
CC       {ECO:0000269|PubMed:22156576}.
CC   -!- DOMAIN: The SOCS box domain mediates the interaction with the Elongin
CC       BC complex, an adapter module in different E3 ubiquitin-protein ligase
CC       complexes. {ECO:0000250}.
CC   -!- DISEASE: Glaucoma 1, open angle, F (GLC1F) [MIM:603383]: A form of
CC       primary open angle glaucoma (POAG). POAG is characterized by a specific
CC       pattern of optic nerve and visual field defects. The angle of the
CC       anterior chamber of the eye is open, and usually the intraocular
CC       pressure is increased. However, glaucoma can occur at any intraocular
CC       pressure. The disease is generally asymptomatic until the late stages,
CC       by which time significant and irreversible optic nerve damage has
CC       already taken place. {ECO:0000269|PubMed:22156576}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the ankyrin SOCS box (ASB) family.
CC       {ECO:0000305}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AF417920; AAL59159.1; -; mRNA.
DR   EMBL; AK125565; BAC86204.1; -; mRNA.
DR   EMBL; AC010973; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC126351; AAI26352.1; -; mRNA.
DR   CCDS; CCDS47749.2; -. [Q8WXI3-2]
DR   CCDS; CCDS47750.2; -. [Q8WXI3-1]
DR   CCDS; CCDS5921.2; -. [Q8WXI3-3]
DR   RefSeq; NP_001135931.2; NM_001142459.1. [Q8WXI3-1]
DR   RefSeq; NP_001135932.2; NM_001142460.1. [Q8WXI3-2]
DR   RefSeq; NP_543147.2; NM_080871.3. [Q8WXI3-3]
DR   AlphaFoldDB; Q8WXI3; -.
DR   SMR; Q8WXI3; -.
DR   BioGRID; 126459; 87.
DR   IntAct; Q8WXI3; 8.
DR   MINT; Q8WXI3; -.
DR   STRING; 9606.ENSP00000391137; -.
DR   GlyGen; Q8WXI3; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q8WXI3; -.
DR   PhosphoSitePlus; Q8WXI3; -.
DR   BioMuta; ASB10; -.
DR   DMDM; 126302522; -.
DR   MassIVE; Q8WXI3; -.
DR   PaxDb; 9606-ENSP00000391137; -.
DR   PeptideAtlas; Q8WXI3; -.
DR   ProteomicsDB; 75065; -. [Q8WXI3-3]
DR   Antibodypedia; 32988; 152 antibodies from 19 providers.
DR   DNASU; 136371; -.
DR   Ensembl; ENST00000275838.5; ENSP00000275838.1; ENSG00000146926.11. [Q8WXI3-2]
DR   Ensembl; ENST00000377867.7; ENSP00000367098.3; ENSG00000146926.11. [Q8WXI3-3]
DR   Ensembl; ENST00000420175.3; ENSP00000391137.2; ENSG00000146926.11. [Q8WXI3-1]
DR   GeneID; 136371; -.
DR   KEGG; hsa:136371; -.
DR   MANE-Select; ENST00000420175.3; ENSP00000391137.2; NM_001142459.2; NP_001135931.2.
DR   UCSC; uc003wjl.1; human. [Q8WXI3-1]
DR   AGR; HGNC:17185; -.
DR   CTD; 136371; -.
DR   DisGeNET; 136371; -.
DR   GeneCards; ASB10; -.
DR   HGNC; HGNC:17185; ASB10.
DR   HPA; ENSG00000146926; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR   MalaCards; ASB10; -.
DR   MIM; 603383; phenotype.
DR   MIM; 615054; gene.
DR   neXtProt; NX_Q8WXI3; -.
DR   OpenTargets; ENSG00000146926; -.
DR   Orphanet; 353225; NON RARE IN EUROPE: Primary adult open-angle glaucoma.
DR   PharmGKB; PA25028; -.
DR   VEuPathDB; HostDB:ENSG00000146926; -.
DR   eggNOG; KOG0504; Eukaryota.
DR   GeneTree; ENSGT00940000158974; -.
DR   HOGENOM; CLU_035721_0_0_1; -.
DR   InParanoid; Q8WXI3; -.
DR   OMA; ACVNNMD; -.
DR   OrthoDB; 1787271at2759; -.
DR   PhylomeDB; Q8WXI3; -.
DR   TreeFam; TF323921; -.
DR   PathwayCommons; Q8WXI3; -.
DR   Reactome; R-HSA-8951664; Neddylation.
DR   Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR   SignaLink; Q8WXI3; -.
DR   UniPathway; UPA00143; -.
DR   BioGRID-ORCS; 136371; 11 hits in 1188 CRISPR screens.
DR   GenomeRNAi; 136371; -.
DR   Pharos; Q8WXI3; Tbio.
DR   PRO; PR:Q8WXI3; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q8WXI3; Protein.
DR   Bgee; ENSG00000146926; Expressed in hindlimb stylopod muscle and 46 other cell types or tissues.
DR   ExpressionAtlas; Q8WXI3; baseline and differential.
DR   Genevisible; Q8WXI3; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR   GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway.
DR   Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 3.
DR   Gene3D; 1.10.750.20; SOCS box; 1.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   InterPro; IPR001496; SOCS_box.
DR   InterPro; IPR036036; SOCS_box-like_dom_sf.
DR   PANTHER; PTHR24203; ANKYRIN REPEAT FAMILY PROTEIN; 1.
DR   PANTHER; PTHR24203:SF45; DIEGO, ISOFORM A; 1.
DR   Pfam; PF00023; Ank; 1.
DR   Pfam; PF12796; Ank_2; 2.
DR   Pfam; PF07525; SOCS_box; 1.
DR   PRINTS; PR01415; ANKYRIN.
DR   SMART; SM00248; ANK; 7.
DR   SMART; SM00969; SOCS_box; 1.
DR   SUPFAM; SSF48403; Ankyrin repeat; 1.
DR   SUPFAM; SSF158235; SOCS box-like; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 5.
DR   PROSITE; PS50225; SOCS; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; ANK repeat; Cytoplasm; Disease variant; Glaucoma;
KW   Nucleus; Reference proteome; Repeat; Ubl conjugation pathway.
FT   CHAIN           1..467
FT                   /note="Ankyrin repeat and SOCS box protein 10"
FT                   /id="PRO_0000066942"
FT   REPEAT          115..144
FT                   /note="ANK 1"
FT   REPEAT          147..176
FT                   /note="ANK 2"
FT   REPEAT          180..209
FT                   /note="ANK 3"
FT   REPEAT          214..243
FT                   /note="ANK 4"
FT   REPEAT          247..289
FT                   /note="ANK 5"
FT   REPEAT          293..322
FT                   /note="ANK 6"
FT   REPEAT          326..361
FT                   /note="ANK 7"
FT   DOMAIN          412..464
FT                   /note="SOCS box"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00194"
FT   VAR_SEQ         1..106
FT                   /note="MLMSWSPEECKGQGEPLDDRHPLCARLVEKPSRGSEEHLKSGPGPIVTRTAS
FT                   GPALAFWQAVLAGDVGCVSRILADSSTGLAPDSVFDTSDPERWRDFRFNIRALR -> M
FT                   PWGKNSSPHWGHHLGCLPSAPACRIWRPHSRPAWEPPRPSPLLCQDMALQNALYTGDLA
FT                   RLQELFPPHSTADLLLESRAAEPRWSSHQRG (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_038997"
FT   VAR_SEQ         369..406
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|Ref.1"
FT                   /id="VSP_023357"
FT   VARIANT         48
FT                   /note="T -> S (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344615)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069867"
FT   VARIANT         65
FT                   /note="G -> E (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886491)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069868"
FT   VARIANT         67
FT                   /note="V -> M (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344616)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069869"
FT   VARIANT         72
FT                   /note="R -> H (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886488)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069870"
FT   VARIANT         88
FT                   /note="D -> V (in dbSNP:rs151344617)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069871"
FT   VARIANT         91
FT                   /note="D -> Y (in dbSNP:rs104886490)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069872"
FT   VARIANT         94
FT                   /note="R -> Q (in GLC1F; uncertain significance;
FT                   dbSNP:rs147737381)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069873"
FT   VARIANT         97
FT                   /note="D -> E (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344619)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069874"
FT   VARIANT         172
FT                   /note="A -> V (in dbSNP:rs151344604)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069875"
FT   VARIANT         183
FT                   /note="R -> C (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344605)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069876"
FT   VARIANT         189
FT                   /note="R -> W (in dbSNP:rs104886473)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069877"
FT   VARIANT         197
FT                   /note="A -> V (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344607)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069878"
FT   VARIANT         207
FT                   /note="V -> L (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886474)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069879"
FT   VARIANT         237
FT                   /note="R -> G (in dbSNP:rs61735708)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069880"
FT   VARIANT         272
FT                   /note="R -> H (in GLC1F; uncertain significance;
FT                   dbSNP:rs140602973)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069881"
FT   VARIANT         295
FT                   /note="Q -> L (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344609)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069882"
FT   VARIANT         304
FT                   /note="R -> C (in dbSNP:rs61735130)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069883"
FT   VARIANT         320
FT                   /note="A -> T (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344610)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069884"
FT   VARIANT         329
FT                   /note="T -> M (in dbSNP:rs104886481)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069885"
FT   VARIANT         332
FT                   /note="H -> Q (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886482)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069886"
FT   VARIANT         356
FT                   /note="H -> Y (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344611)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069887"
FT   VARIANT         360
FT                   /note="R -> H (in GLC1F; uncertain significance;
FT                   dbSNP:rs151344612)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069888"
FT   VARIANT         372
FT                   /note="R -> C (in dbSNP:rs62489646)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069889"
FT   VARIANT         402
FT                   /note="P -> T (in dbSNP:rs919533)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069890"
FT   VARIANT         440
FT                   /note="S -> G (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886487)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_069891"
FT   VARIANT         453
FT                   /note="R -> C (in dbSNP:rs3800791)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_022090"
FT   CONFLICT        421
FT                   /note="Q -> R (in Ref. 2; BAC86204)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        433
FT                   /note="L -> P (in Ref. 2; BAC86204)"
FT                   /evidence="ECO:0000305"
FT   VARIANT         Q8WXI3-3:19
FT                   /note="P -> S (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886462)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_082796"
FT   VARIANT         Q8WXI3-3:32
FT                   /note="R -> S (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886465)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_082797"
FT   VARIANT         Q8WXI3-3:39
FT                   /note="R -> Q (in GLC1F; uncertain significance;
FT                   dbSNP:rs104886467)"
FT                   /evidence="ECO:0000269|PubMed:22156576"
FT                   /id="VAR_082798"
SQ   SEQUENCE   467 AA;  50894 MW;  7C92C07B154479DE CRC64;
     MLMSWSPEEC KGQGEPLDDR HPLCARLVEK PSRGSEEHLK SGPGPIVTRT ASGPALAFWQ
     AVLAGDVGCV SRILADSSTG LAPDSVFDTS DPERWRDFRF NIRALRLWSL TYEEELTTPL
     HVAASRGHTE VLRLLLRRRA RPDSAPGGRT ALHEACAAGH TACVHVLLVA GADPNIADQD
     GKRPLHLCRG PGTLECAELL LRFGARVDGR SEEEEETPLH VAARLGHVEL ADLLLRRGAC
     PDARNAEGWT PLLAACDVRC QSITDAEATT ARCLQLCSLL LSAGADADAA DQDKQRPLHL
     ACRRGHAAVV ELLLSCGVSA NTMDYGGHTP LHCALQGPAA ALAQSPEHVV RALLNHGAVR
     VWPGALPKVL ERWSTCPRTI EVLMNTYSVV QLPEEAVGLV TPETLQKHQR FYSSLFALVR
     QPRSLQHLSR CALRSHLEGS LPQALPRLPL PPRLLRYLQL DFEGVLY
//
DBGET integrated database retrieval system