S26A3_HUMAN
ID S26A3_HUMAN Reviewed; 764 AA.
AC P40879;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1995, sequence version 1.
DT 03-AUG-2022, entry version 198.
DE RecName: Full=Chloride anion exchanger;
DE AltName: Full=Down-regulated in adenoma;
DE Short=Protein DRA;
DE AltName: Full=Solute carrier family 26 member 3;
GN Name=SLC26A3; Synonyms=DRA;
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].
RC TISSUE=Colon;
RX PubMed=7683425; DOI=10.1073/pnas.90.9.4166;
RA Schweinfest C.W., Henderson K.W., Suster S., Kondoh N., Papas T.S.;
RT "Identification of a colon mucosa gene that is down-regulated in colon
RT adenomas and adenocarcinomas.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:4166-4170(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 [3]
RP SIMILARITY TO SULFATE PERMEASES.
RX PubMed=8140616; DOI=10.1016/0968-0004(94)90168-6;
RA Sandal N.N., Marcker K.A.;
RT "Similarities between a soybean nodulin, Neurospora crassa sulphate
RT permease II and a putative human tumour suppressor.";
RL Trends Biochem. Sci. 19:19-19(1994).
RN [4]
RP INTERACTION WITH PDZK1.
RX PubMed=15766278; DOI=10.1021/bi048828b;
RA Rossmann H., Jacob P., Baisch S., Hassoun R., Meier J., Natour D.,
RA Yahya K., Yun C., Biber J., Lackner K.J., Fiehn W., Gregor M., Seidler U.,
RA Lamprecht G.;
RT "The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-
RT exchanger DRA in rabbit small intestinal mucosa.";
RL Biochemistry 44:4477-4487(2005).
RN [5]
RP GLYCOSYLATION AT ASN-153; ASN-161 AND ASN-165, AND SUBCELLULAR LOCATION.
RX PubMed=22159084; DOI=10.1152/ajpcell.00165.2011;
RA Hayashi H., Yamashita Y.;
RT "Role of N-glycosylation in cell surface expression and protection against
RT proteolysis of the intestinal anion exchanger SLC26A3.";
RL Am. J. Physiol. 302:C781-C795(2012).
RN [6]
RP VARIANTS DIAR1 LEU-124 AND VAL-318 DEL, AND VARIANT TRP-307.
RX PubMed=8896562; DOI=10.1038/ng1196-316;
RA Hoeglund P., Haila S., Socha J., Tomaszewski L., Saarialho-Kere U.,
RA Karjalainen-Lindsberg M.-L., Airola K., Holmberg C., de la Chapelle A.,
RA Kere J.;
RT "Mutations of the Down-regulated in adenoma (DRA) gene cause congenital
RT chloride diarrhoea.";
RL Nat. Genet. 14:316-319(1996).
RN [7]
RP VARIANTS DIAR1 SER-120; LEU-124; ARG-131 AND ARG-496.
RX PubMed=9718329; DOI=10.1086/301998;
RA Hoglund P., Auranen M., Socha J., Popinska K., Nazer H., Rajaram U.,
RA Al Sanie A., Al-Ghanim M., Holmberg C., de la Chapelle A., Kere J.;
RT "Genetic background of congenital chloride diarrhea in high-incidence
RT populations: Finland, Poland, and Saudi Arabia and Kuwait.";
RL Am. J. Hum. Genet. 63:760-768(1998).
RN [8]
RP VARIANTS DIAR1 SER-120; ARG-131; VAL-318 DEL AND TYR-527 DEL.
RX PubMed=9554749;
RX DOI=10.1002/(sici)1098-1004(1998)11:4<321::aid-humu10>3.0.co;2-a;
RA Hoeglund P., Haila S., Gustavson K.-H., Taipale M., Hannula K.,
RA Popinska K., Holmberg C., Socha J., de la Chapelle A., Kere J.;
RT "Clustering of private mutations in the congenital chloride diarrhea/down-
RT regulated in adenoma gene.";
RL Hum. Mutat. 11:321-327(1998).
RN [9]
RP VARIANTS DIAR1 PRO-206 AND VAL-468.
RX PubMed=11524734; DOI=10.1002/humu.1179;
RA Hoeglund P., Sormaala M., Haila S., Socha J., Rajaram U., Scheurlen W.,
RA Sinaasappel M., de Jonge H., Holmberg C., Yoshikawa H., Kere J.;
RT "Identification of seven novel mutations including the first two genomic
RT rearrangements in SLC26A3 mutated in congenital chloride diarrhea.";
RL Hum. Mutat. 18:233-242(2001).
RN [10]
RP VARIANTS DIAR1 CYS-520 AND ASN-652.
RX PubMed=19861545; DOI=10.1073/pnas.0910672106;
RA Choi M., Scholl U.I., Ji W., Liu T., Tikhonova I.R., Zumbo P., Nayir A.,
RA Bakkaloglu A., Ozen S., Sanjad S., Nelson-Williams C., Farhi A., Mane S.,
RA Lifton R.P.;
RT "Genetic diagnosis by whole exome capture and massively parallel DNA
RT sequencing.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:19096-19101(2009).
RN [11]
RP VARIANTS DIAR1 LEU-129; LEU-131; ILE-136; ASP-204; PRO-220; TYR-343;
RP 344-PHE--VAL-349 DELINS ASP-ALA; ALA-379; PHE-398; ASN-521 AND ASN-544.
RX PubMed=21394828; DOI=10.1002/humu.21498;
RA Wedenoja S., Pekansaari E., Hoglund P., Makela S., Holmberg C., Kere J.;
RT "Update on SLC26A3 mutations in congenital chloride diarrhea.";
RL Hum. Mutat. 32:715-722(2011).
RN [12]
RP VARIANT DIAR1 PRO-220.
RX PubMed=21150650; DOI=10.1097/mpg.0b013e3181f28d1a;
RA Rodriguez-Herrera A., Navas-Lopez V.M., Redondo-Nevado J., Gutierrez G.;
RT "Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings
RT with congenital chloride diarrhea.";
RL J. Pediatr. Gastroenterol. Nutr. 52:106-110(2011).
RN [13]
RP VARIANT DIAR1 SER-175.
RX PubMed=22779076; DOI=10.3343/alm.2012.32.4.312;
RA Lee E.S., Cho A.R., Ki C.S.;
RT "Identification of SLC26A3 mutations in a Korean patient with congenital
RT chloride diarrhea.";
RL Ann. Lab. Med. 32:312-315(2012).
RN [14]
RP VARIANTS DIAR1 LEU-131 AND ASN-134.
RX PubMed=23274434; DOI=10.1007/s00431-012-1905-3;
RA Hong J., Seo J.K., Ko J.S., Cheong H.I., Choi J.H., Lee J.H., Seo J.W.;
RT "Congenital chloride diarrhea in Korean children: novel mutations and
RT genetic characteristics.";
RL Eur. J. Pediatr. 172:545-550(2013).
RN [15]
RP VARIANTS DIAR1 SER-120; LEU-129; ARG-131; VAL-318 DEL; ILE-394; PRO-438;
RP PRO-495; ARG-508; GLU-547; PRO-654 AND ILE-675 INS.
RX PubMed=28644346; DOI=10.1097/mpg.0000000000001418;
RA Amato F., Cardillo G., Liguori R., Scorza M., Comegna M., Elce A.,
RA Giordano S., Lucaccioni L., Lugli L., Cardile S., Romano C., Pezzella V.,
RA Castaldo G., Canani R.B.;
RT "Twelve novel mutations in the SLC26A3 gene in 17 sporadic cases of
RT congenital chloride diarrhea.";
RL J. Pediatr. Gastroenterol. Nutr. 65:26-30(2017).
CC -!- FUNCTION: Chloride/bicarbonate exchanger. Mediates the efficient
CC absorption of chloride ions in the colon, participating in fluid
CC homeostasis. Plays a role in the chloride and bicarbonate homeostasis
CC during sperm epididymal maturation and capacitation.
CC -!- SUBUNIT: Interacts with CFTR, SLC26A6 and SLC9A3R1 (By similarity).
CC Interacts with PDZK1. {ECO:0000250, ECO:0000269|PubMed:15766278}.
CC -!- INTERACTION:
CC P40879; Q15599: SLC9A3R2; NbExp=5; IntAct=EBI-8542350, EBI-1149760;
CC -!- SUBCELLULAR LOCATION: Apical cell membrane
CC {ECO:0000269|PubMed:22159084}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:22159084}. Membrane {ECO:0000250}; Multi-pass
CC membrane protein {ECO:0000250}. Note=Localized in sperm membranes.
CC Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm
CC tail (By similarity). {ECO:0000250}.
CC -!- DEVELOPMENTAL STAGE: Expression is significantly decreased in adenomas
CC (polyps) and adenocarcinomas of the colon.
CC -!- PTM: N-glycosylation is required for efficient cell surface expression,
CC and protection from proteolytic degradation.
CC {ECO:0000269|PubMed:22159084}.
CC -!- DISEASE: Diarrhea 1, secretory chloride, congenital (DIAR1)
CC [MIM:214700]: A disease characterized by voluminous watery stools
CC containing an excess of chloride. The children with this disease are
CC often premature. {ECO:0000269|PubMed:11524734,
CC ECO:0000269|PubMed:19861545, ECO:0000269|PubMed:21150650,
CC ECO:0000269|PubMed:21394828, ECO:0000269|PubMed:22779076,
CC ECO:0000269|PubMed:23274434, ECO:0000269|PubMed:28644346,
CC ECO:0000269|PubMed:8896562, ECO:0000269|PubMed:9554749,
CC ECO:0000269|PubMed:9718329}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
CC {ECO:0000305}.
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DR EMBL; L02785; AAA58443.1; -; mRNA.
DR EMBL; BC025671; AAH25671.1; -; mRNA.
DR CCDS; CCDS5748.1; -.
DR PIR; A47456; A47456.
DR RefSeq; NP_000102.1; NM_000111.2.
DR RefSeq; XP_011514169.1; XM_011515867.2.
DR AlphaFoldDB; P40879; -.
DR SMR; P40879; -.
DR BioGRID; 108145; 1.
DR IntAct; P40879; 2.
DR MINT; P40879; -.
DR STRING; 9606.ENSP00000345873; -.
DR ChEMBL; CHEMBL4523223; -.
DR TCDB; 2.A.53.2.18; the sulfate permease (sulp) family.
DR GlyGen; P40879; 3 sites.
DR iPTMnet; P40879; -.
DR PhosphoSitePlus; P40879; -.
DR BioMuta; SLC26A3; -.
DR DMDM; 729367; -.
DR jPOST; P40879; -.
DR MassIVE; P40879; -.
DR PaxDb; P40879; -.
DR PeptideAtlas; P40879; -.
DR PRIDE; P40879; -.
DR ProteomicsDB; 55383; -.
DR Antibodypedia; 31383; 82 antibodies from 26 providers.
DR DNASU; 1811; -.
DR Ensembl; ENST00000340010.10; ENSP00000345873.5; ENSG00000091138.13.
DR GeneID; 1811; -.
DR KEGG; hsa:1811; -.
DR MANE-Select; ENST00000340010.10; ENSP00000345873.5; NM_000111.3; NP_000102.1.
DR UCSC; uc003ver.3; human.
DR CTD; 1811; -.
DR DisGeNET; 1811; -.
DR GeneCards; SLC26A3; -.
DR HGNC; HGNC:3018; SLC26A3.
DR HPA; ENSG00000091138; Tissue enriched (intestine).
DR MalaCards; SLC26A3; -.
DR MIM; 126650; gene.
DR MIM; 214700; phenotype.
DR neXtProt; NX_P40879; -.
DR OpenTargets; ENSG00000091138; -.
DR Orphanet; 53689; Congenital chloride diarrhea.
DR PharmGKB; PA35044; -.
DR VEuPathDB; HostDB:ENSG00000091138; -.
DR eggNOG; KOG0236; Eukaryota.
DR GeneTree; ENSGT01050000244807; -.
DR HOGENOM; CLU_003182_9_4_1; -.
DR InParanoid; P40879; -.
DR OMA; KKRDRHH; -.
DR OrthoDB; 690428at2759; -.
DR PhylomeDB; P40879; -.
DR TreeFam; TF313784; -.
DR PathwayCommons; P40879; -.
DR Reactome; R-HSA-427601; Multifunctional anion exchangers.
DR Reactome; R-HSA-5619085; Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1).
DR SignaLink; P40879; -.
DR SIGNOR; P40879; -.
DR BioGRID-ORCS; 1811; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; SLC26A3; human.
DR GeneWiki; SLC26A3; -.
DR GenomeRNAi; 1811; -.
DR Pharos; P40879; Tbio.
DR PRO; PR:P40879; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P40879; protein.
DR Bgee; ENSG00000091138; Expressed in colonic mucosa and 109 other tissues.
DR ExpressionAtlas; P40879; baseline and differential.
DR Genevisible; P40879; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0031526; C:brush border membrane; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0015301; F:anion:anion antiporter activity; IBA:GO_Central.
DR GO; GO:0015106; F:bicarbonate transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0015108; F:chloride transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0005452; F:inorganic anion exchanger activity; TAS:Reactome.
DR GO; GO:0019531; F:oxalate transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0008271; F:secondary active sulfate transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0015116; F:sulfate transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006820; P:anion transport; TAS:ProtInc.
DR GO; GO:0071320; P:cellular response to cAMP; ISS:UniProtKB.
DR GO; GO:0051454; P:intracellular pH elevation; ISS:UniProtKB.
DR GO; GO:0006811; P:ion transport; TAS:Reactome.
DR GO; GO:0060081; P:membrane hyperpolarization; ISS:UniProtKB.
DR GO; GO:0048240; P:sperm capacitation; ISS:UniProtKB.
DR Gene3D; 3.30.750.24; -; 1.
DR InterPro; IPR018045; S04_transporter_CS.
DR InterPro; IPR011547; SLC26A/SulP_dom.
DR InterPro; IPR001902; SLC26A/SulP_fam.
DR InterPro; IPR030321; SLC26A3.
DR InterPro; IPR002645; STAS_dom.
DR InterPro; IPR036513; STAS_dom_sf.
DR PANTHER; PTHR11814; PTHR11814; 1.
DR PANTHER; PTHR11814:SF19; PTHR11814:SF19; 1.
DR Pfam; PF01740; STAS; 1.
DR Pfam; PF00916; Sulfate_transp; 1.
DR SUPFAM; SSF52091; SSF52091; 1.
DR TIGRFAMs; TIGR00815; sulP; 1.
DR PROSITE; PS01130; SLC26A; 1.
DR PROSITE; PS50801; STAS; 1.
PE 1: Evidence at protein level;
KW Antiport; Cell membrane; Chloride; Disease variant; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..764
FT /note="Chloride anion exchanger"
FT /id="PRO_0000080161"
FT TOPO_DOM 1..76
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 98..99
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 121..124
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 125..145
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 146..175
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 197
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 198..218
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 219..257
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 258..278
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 279..342
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 343..363
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 364..374
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 375..395
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 396..411
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 412..432
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 433..469
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 470..490
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 491..701
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT DOMAIN 525..720
FT /note="STAS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00198"
FT CARBOHYD 153
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22159084"
FT CARBOHYD 161
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22159084"
FT CARBOHYD 165
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22159084"
FT VARIANT 68
FT /note="R -> Q (in dbSNP:rs10280704)"
FT /id="VAR_053660"
FT VARIANT 120
FT /note="G -> S (in DIAR1; dbSNP:rs386833479)"
FT /evidence="ECO:0000269|PubMed:28644346,
FT ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329"
FT /id="VAR_007428"
FT VARIANT 124
FT /note="H -> L (in DIAR1; dbSNP:rs121913030)"
FT /evidence="ECO:0000269|PubMed:8896562,
FT ECO:0000269|PubMed:9718329"
FT /id="VAR_007429"
FT VARIANT 129
FT /note="P -> L (in DIAR1; dbSNP:rs386833480)"
FT /evidence="ECO:0000269|PubMed:21394828,
FT ECO:0000269|PubMed:28644346"
FT /id="VAR_066062"
FT VARIANT 131
FT /note="P -> L (in DIAR1; dbSNP:rs386833481)"
FT /evidence="ECO:0000269|PubMed:21394828,
FT ECO:0000269|PubMed:23274434"
FT /id="VAR_066063"
FT VARIANT 131
FT /note="P -> R (in DIAR1; dbSNP:rs386833481)"
FT /evidence="ECO:0000269|PubMed:28644346,
FT ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329"
FT /id="VAR_007430"
FT VARIANT 134
FT /note="S -> N (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:23274434"
FT /id="VAR_077354"
FT VARIANT 136
FT /note="M -> I (in DIAR1; dbSNP:rs386833483)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066064"
FT VARIANT 175
FT /note="R -> S (in DIAR1; dbSNP:rs386833484)"
FT /evidence="ECO:0000269|PubMed:22779076"
FT /id="VAR_077355"
FT VARIANT 204
FT /note="Y -> D (in DIAR1; dbSNP:rs386833487)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066065"
FT VARIANT 206
FT /note="S -> P (in DIAR1; dbSNP:rs386833488)"
FT /evidence="ECO:0000269|PubMed:11524734"
FT /id="VAR_012777"
FT VARIANT 220
FT /note="H -> P (in DIAR1; dbSNP:rs386833489)"
FT /evidence="ECO:0000269|PubMed:21150650,
FT ECO:0000269|PubMed:21394828"
FT /id="VAR_066066"
FT VARIANT 307
FT /note="C -> W (in dbSNP:rs34407351)"
FT /evidence="ECO:0000269|PubMed:8896562"
FT /id="VAR_007431"
FT VARIANT 318
FT /note="Missing (in DIAR1; dbSNP:rs386833491)"
FT /evidence="ECO:0000269|PubMed:28644346,
FT ECO:0000269|PubMed:8896562, ECO:0000269|PubMed:9554749"
FT /id="VAR_007432"
FT VARIANT 343
FT /note="C -> Y (in DIAR1; dbSNP:rs386833444)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066067"
FT VARIANT 344..349
FT /note="FGIAMV -> DA (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066068"
FT VARIANT 379
FT /note="G -> A (in DIAR1; dbSNP:rs386833446)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066069"
FT VARIANT 394
FT /note="S -> I (in DIAR1; dbSNP:rs1228273365)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077356"
FT VARIANT 398
FT /note="S -> F (in DIAR1; dbSNP:rs143839547)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066070"
FT VARIANT 438
FT /note="S -> P (in DIAR1; dbSNP:rs763669046)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077357"
FT VARIANT 468
FT /note="D -> V (in DIAR1; dbSNP:rs386833454)"
FT /evidence="ECO:0000269|PubMed:11524734"
FT /id="VAR_012778"
FT VARIANT 495
FT /note="Q -> P (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077358"
FT VARIANT 496
FT /note="L -> R (in DIAR1; dbSNP:rs386833457)"
FT /evidence="ECO:0000269|PubMed:9718329"
FT /id="VAR_066071"
FT VARIANT 508
FT /note="C -> R (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077359"
FT VARIANT 520
FT /note="Y -> C (in DIAR1; dbSNP:rs386833462)"
FT /evidence="ECO:0000269|PubMed:19861545"
FT /id="VAR_066072"
FT VARIANT 521
FT /note="K -> N (in DIAR1; dbSNP:rs386833463)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066073"
FT VARIANT 527
FT /note="Missing (in DIAR1; dbSNP:rs386833464)"
FT /evidence="ECO:0000269|PubMed:9554749"
FT /id="VAR_007433"
FT VARIANT 544
FT /note="I -> N (in DIAR1; dbSNP:rs386833467)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066074"
FT VARIANT 547
FT /note="A -> E (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077360"
FT VARIANT 554
FT /note="R -> Q (in dbSNP:rs2301635)"
FT /id="VAR_053661"
FT VARIANT 652
FT /note="D -> N (in DIAR1; dbSNP:rs140426439)"
FT /evidence="ECO:0000269|PubMed:19861545"
FT /id="VAR_066075"
FT VARIANT 654
FT /note="S -> P (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077361"
FT VARIANT 675
FT /note="I -> II (in DIAR1; dbSNP:rs121913031)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077362"
FT VARIANT 753
FT /note="N -> S (in dbSNP:rs35342296)"
FT /id="VAR_053662"
SQ SEQUENCE 764 AA; 84505 MW; 694C5BC2D4121F6D CRC64;
MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA KRIVLSLFPI
ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI PPVYGLYASF FPAIIYLFFG
TSRHISVGPF PILSMMVGLA VSGAVSKAVP DRNATTLGLP NNSNNSSLLD DERVRVAAAA
SVTVLSGIIQ LAFGILRIGF VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP
VSIFKVLYSV FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA
AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA FAVAFSVASV
YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS AVQESTGGKT QIAGLIGAII
VLIVVLAIGF LLAPLQKSVL AALALGNLKG MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI
VLGLGLGLAA SVAFQLLTIV FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC
PSPIYFANIG FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT
IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI LDFSAVSFLD
VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF DGEVKSSIFF LTIHDAVLHI
LMKKDYSTSK FNPSQEKDGK IDFTINTNGG LRNRVYEVPV ETKF
