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 22-APR-2020, entry version 188. 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 mutations CC affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the SLC26A/SulP transporter (TC 2.A.53) 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; 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 SMR; P40879; -. DR BioGrid; 108145; 1. DR IntAct; P40879; 2. DR MINT; P40879; -. DR STRING; 9606.ENSP00000345873; -. DR TCDB; 2.A.53.2.18; the sulfate permease (sulp) family. 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; 76 antibodies. DR DNASU; 1811; -. DR Ensembl; ENST00000340010; ENSP00000345873; ENSG00000091138. DR GeneID; 1811; -. DR KEGG; hsa:1811; -. DR UCSC; uc003ver.3; human. DR CTD; 1811; -. DR DisGeNET; 1811; -. DR GeneCards; SLC26A3; -. DR HGNC; HGNC:3018; SLC26A3. DR HPA; ENSG00000091138; Group enriched (gallbladder, intestine, lymphoid tissue). 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 eggNOG; KOG0236; Eukaryota. DR eggNOG; COG0659; LUCA. DR GeneTree; ENSGT00950000182695; -. DR HOGENOM; CLU_003182_9_4_1; -. DR InParanoid; P40879; -. DR KO; K14078; -. DR OMA; MLMQFTE; -. DR OrthoDB; 690428at2759; -. DR PhylomeDB; P40879; -. DR TreeFam; TF313784; -. DR Reactome; R-HSA-427601; Multifunctional anion exchangers. DR Reactome; R-HSA-5619085; Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1). DR SIGNOR; P40879; -. 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 90 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:0005623; C:cell; IEA:GOC. 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:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc. 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:0003712; F:transcription coregulator activity; TAS:ProtInc. DR GO; GO:0005215; F:transporter activity; TAS:ProtInc. DR GO; GO:0006820; P:anion transport; TAS:ProtInc. DR GO; GO:0071320; P:cellular response to cAMP; ISS:UniProtKB. DR GO; GO:0007588; P:excretion; TAS:ProtInc. 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 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 mutation; Glycoprotein; KW Membrane; Polymorphism; Reference proteome; Transmembrane; KW 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)" 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 //