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S26A4_HUMAN
ID   S26A4_HUMAN             Reviewed;         780 AA.
AC   O43511; B7Z266; O43170;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-1998, sequence version 1.
DT   03-AUG-2022, entry version 205.
DE   RecName: Full=Pendrin;
DE   AltName: Full=Sodium-independent chloride/iodide transporter;
DE   AltName: Full=Solute carrier family 26 member 4;
GN   Name=SLC26A4; Synonyms=PDS;
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), AND VARIANT PDS CYS-667.
RC   TISSUE=Thyroid;
RX   PubMed=9398842; DOI=10.1038/ng1297-411;
RA   Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M.,
RA   Adawi F., Hazani E., Nassir E., Baxevanis A.D., Sheffield V.C., Green E.D.;
RT   "Pendred syndrome is caused by mutations in a putative sulphate transporter
RT   gene (PDS).";
RL   Nat. Genet. 17:411-422(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Amygdala;
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   FUNCTION.
RX   PubMed=10192399; DOI=10.1038/7783;
RA   Scott D.A., Wang R., Kreman T.M., Sheffield V.C., Karnishki L.P.;
RT   "The Pendred syndrome gene encodes a chloride-iodide transport protein.";
RL   Nat. Genet. 21:440-443(1999).
RN   [5]
RP   VARIANTS PDS PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; HIS-409; PRO-416;
RP   TRP-445; TYR-565 AND ARG-723.
RX   PubMed=9618166; DOI=10.1093/hmg/7.7.1099;
RA   van Hauwe P., Everett L.A., Coucke P., Scott D.A., Kraft M.L.,
RA   Ris-Stalpers C., Bolder C., Otten B., de Vijlder J.J.M., Dietrich N.L.,
RA   Ramesh A., Srisailapathy S.C.R., Parving A., Cremers C.W.R.J.,
RA   Willems P.J., Smith R.J.H., Green E.D., van Camp G.;
RT   "Two frequent missense mutations in Pendred syndrome.";
RL   Hum. Mol. Genet. 7:1099-1104(1998).
RN   [6]
RP   VARIANTS PDS PHE-138; PRO-236; GLY-384; HIS-409; MET-410; PRO-416; HIS-530;
RP   CYS-556 AND GLU-672.
RX   PubMed=9618167; DOI=10.1093/hmg/7.7.1105;
RA   Coyle B., Reardon W., Herbrick J.-A., Tsui L.-C., Gausden E., Lee J.,
RA   Coffey R., Grueters A., Grossman A., Phelps P.D., Luxon L.,
RA   Kendall-Taylor P., Scherer S.W., Trembath R.C.;
RT   "Molecular analysis of the PDS gene in Pendred syndrome (sensorineural
RT   hearing loss and goitre).";
RL   Hum. Mol. Genet. 7:1105-1112(1998).
RN   [7]
RP   VARIANTS DFNB4 LEU-490 AND SER-497.
RX   PubMed=9500541; DOI=10.1038/ng0398-215;
RA   Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D.,
RA   Wilcox E.R.;
RT   "A mutation in PDS causes non-syndromic recessive deafness.";
RL   Nat. Genet. 18:215-217(1998).
RN   [8]
RP   VARIANTS DFNB4 VAL-209; GLU-369; VAL-372; MET-721 AND ARG-723.
RX   PubMed=10190331; DOI=10.1007/s004390050933;
RA   Usami S., Abe S., Weston M.D., Shinkawa H., Van Camp G., Kimberling W.J.;
RT   "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is
RT   caused by PDS mutations.";
RL   Hum. Genet. 104:188-192(1999).
RN   [9]
RP   VARIANT PDS TRP-445.
RX   PubMed=10602116;
RX   DOI=10.1002/(sici)1096-8628(20000103)90:1<38::aid-ajmg8>3.0.co;2-r;
RA   Masmoudi S., Charfedine I., Hmani M., Grati M., Ghorbel A.M.,
RA   Elgaied-Boulila A., Drira M., Hardelin J.-P., Ayadi M.;
RT   "Pendred syndrome: phenotypic variability in two families carrying the same
RT   PDS missense mutation.";
RL   Am. J. Med. Genet. 90:38-44(2000).
RN   [10]
RP   VARIANT PDS ASN-508.
RX   PubMed=10718825; DOI=10.1046/j.1365-2265.2000.00930.x;
RA   Bogazzi F., Raggi F., Ultimieri F., Campomori A., Cosci C., Berrettini S.,
RA   Neri E., La Rocca R., Ronca G., Martino E., Bartalena L.;
RT   "A novel mutation in the pendrin gene associated with Pendred's syndrome.";
RL   Clin. Endocrinol. (Oxf.) 52:279-285(2000).
RN   [11]
RP   VARIANT PDS ILE-193.
RX   PubMed=10878664; DOI=10.1038/sj.ejhg.5200489;
RA   Adato A., Raskin L., Petit C., Bonne-Tamir B.;
RT   "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF
RT   and PDS mutations, low prevalence of GJB2 35delG mutation and indication
RT   for a new DFNB locus.";
RL   Eur. J. Hum. Genet. 8:437-442(2000).
RN   [12]
RP   VARIANTS DFNB4 PHE-117; VAL-209; PRO-236; MET-410; PRO-416; TRP-445 AND
RP   ARG-446.
RX   PubMed=10700480; DOI=10.1093/qjmed/93.2.99;
RA   Reardon W., O'Mahoney C.F., Trembath R., Jan H., Phelps P.D.;
RT   "Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome,
RT   and mutation of the PDS gene.";
RL   QJM 93:99-104(2000).
RN   [13]
RP   VARIANTS PDS PHE-138 AND PRO-411.
RX   PubMed=11375792; DOI=10.1530/eje.0.1440585;
RA   Gonzalez Trevino O., Karamanoglu Arseven O., Ceballos C.J., Vives V.I.,
RA   Ramirez R.C., Gomez V.V., Medeiros-Neto G., Kopp P.;
RT   "Clinical and molecular analysis of three Mexican families with Pendred's
RT   syndrome.";
RL   Eur. J. Endocrinol. 144:585-593(2001).
RN   [14]
RP   VARIANTS PDS GLN-29; CYS-105; ASP-106; PHE-138; VAL-209; PRO-236; LEU-335;
RP   PRO-416; ASP-480; HIS-530; ALA-653 AND GLU-672, AND VARIANT SER-597.
RX   PubMed=11317356; DOI=10.1002/humu.1116;
RA   Campbell C., Cucci R.A., Prasad S., Green G.E., Edeal J.B., Galer C.E.,
RA   Karniski L.P., Sheffield V.C., Smith R.J.H.;
RT   "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel
RT   mutations and possible genotype-phenotype correlations.";
RL   Hum. Mutat. 17:403-411(2001).
RN   [15]
RP   VARIANTS PDS TRP-445; HIS-556 AND MET-721, AND VARIANTS DFNB4 ILE-132 AND
RP   MET-410.
RX   PubMed=11748854; DOI=10.1002/humu.1238;
RA   Lopez-Bigas N., Melchionda S., de Cid R., Grifa A., Zelante L., Govea N.,
RA   Arbones M.L., Gasparini P., Estivill X.;
RT   "Identification of five new mutations of PDS/SLC26A4 in Mediterranean
RT   families with hearing impairment.";
RL   Hum. Mutat. 18:548-548(2001).
RN   [16]
RP   ERRATUM OF PUBMED:11748854.
RX   PubMed=12112665; DOI=10.1002/humu.9043;
RA   Lopez-Bigas N., Melchionda S., de Cid R., Grifa A., Zelante L., Govea N.,
RA   Arbones M.L., Gasparini P., Estivill X.;
RL   Hum. Mutat. 20:77-78(2002).
RN   [17]
RP   CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209;
RP   PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672.
RX   PubMed=11932316; DOI=10.1210/jcem.87.4.8435;
RA   Taylor J.P., Metcalfe R.A., Watson P.F., Weetman A.P., Trembath R.C.;
RT   "Mutations of the PDS gene, encoding pendrin, are associated with protein
RT   mislocalization and loss of iodide efflux: implications for thyroid
RT   dysfunction in Pendred syndrome.";
RL   J. Clin. Endocrinol. Metab. 87:1778-1784(2002).
RN   [18]
RP   VARIANTS PDS ARG-28; THR-133; HIS-409 AND MET-410, AND VARIANT SER-597.
RX   PubMed=11919333; DOI=10.1203/00006450-200204000-00013;
RA   Fugazzola L., Cerutti N., Mannavola D., Crino A., Cassio A., Gasparoni P.,
RA   Vannucchi G., Beck-Peccoz P.;
RT   "Differential diagnosis between Pendred and pseudo-Pendred syndromes:
RT   clinical, radiologic, and molecular studies.";
RL   Pediatr. Res. 51:479-484(2002).
RN   [19]
RP   VARIANTS PDS ASP-239 AND ARG-723.
RX   PubMed=12974744; DOI=10.1034/j.1399-0004.2003.00144.x;
RA   Tekin M., Akcayoez D., Comak E., Bogoclu G., Duman T., Fitoz S., Ilhan I.,
RA   Akar N.;
RT   "Screening the SLC26A4 gene in probands with deafness and goiter (Pendred
RT   syndrome) ascertained from a large group of students of the schools for the
RT   deaf in Turkey.";
RL   Clin. Genet. 64:371-374(2003).
RN   [20]
RP   VARIANTS DFNB4 SER-123; VAL-147 AND PHE-666.
RX   PubMed=14508505; DOI=10.1038/sj.ejhg.5201073;
RA   Tsukamoto K., Suzuki H., Harada D., Namba A., Abe S., Usami S.;
RT   "Distribution and frequencies of PDS (SLC26A4) mutations in Pendred
RT   syndrome and nonsyndromic hearing loss associated with enlarged vestibular
RT   aqueduct: a unique spectrum of mutations in Japanese.";
RL   Eur. J. Hum. Genet. 11:916-922(2003).
RN   [21]
RP   VARIANTS PDS THR-133; PHE-138; GLY-384 AND HIS-530.
RX   PubMed=12788906; DOI=10.1210/jc.2002-021334;
RA   Borck G., Roth C., Martine U., Wildhardt G., Pohlenz J.;
RT   "Mutations in the PDS gene in German families with Pendred's syndrome:
RT   V138F is a founder mutation.";
RL   J. Clin. Endocrinol. Metab. 88:2916-2921(2003).
RN   [22]
RP   VARIANTS DFNB4 ARG-28; LEU-90; ASP-239; PRO-252; TYR-392; PRO-409; MET-410;
RP   LYS-457; GLN-676; MET-721 AND ARG-723, AND VARIANT PHE-455.
RX   PubMed=12676893; DOI=10.1136/jmg.40.4.242;
RA   Park H.-J., Shaukat S., Liu X.-Z., Hahn S.H., Naz S., Ghosh M., Kim H.-N.,
RA   Moon S.-K., Abe S., Tukamoto K., Riazuddin S., Kabra M., Erdenetungalag R.,
RA   Radnaabazar J., Khan S., Pandya A., Usami S., Nance W.E., Wilcox E.R.,
RA   Riazuddin S., Griffith A.J.;
RT   "Origins and frequencies of SLC26A4 (PDS) mutations in east and south
RT   Asians: global implications for the epidemiology of deafness.";
RL   J. Med. Genet. 40:242-248(2003).
RN   [23]
RP   VARIANTS PDS/DFNB4 GLY-24; GLN-29; CYS-78; VAL-104; CYS-105; ASP-106;
RP   PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; LEU-335; GLY-384; HIS-409;
RP   MET-410; PRO-416; ARG-421; ALA-429 DEL; TRP-445; ASP-480; HIS-530; CYS-556;
RP   TYR-565; ALA-653; GLU-672; SER-683 AND ARG-723, AND VARIANTS TYR-324 AND
RP   SER-597.
RX   PubMed=14679580; DOI=10.1002/ajmg.a.20272;
RA   Prasad S., Koelln K.A., Cucci R.A., Trembath R.C., Van Camp G.,
RA   Smith R.J.H.;
RT   "Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing
RT   high-performance liquid chromatography and the identification of eleven
RT   novel mutations.";
RL   Am. J. Med. Genet. A 124:1-9(2004).
RN   [24]
RP   VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236;
RP   ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; PRO-694;
RP   MET-721 AND ASN-724, AND VARIANT SER-597.
RX   PubMed=15355436; DOI=10.1111/j.1399-0004.2004.00296.x;
RA   Blons H., Feldmann D., Duval V., Messaz O., Denoyelle F., Loundon N.,
RA   Sergout-Allaoui A., Houang M., Duriez F., Lacombe D., Delobel B., Leman J.,
RA   Catros H., Journel H., Drouin-Garraud V., Obstoy M.-F., Toutain A.,
RA   Oden S., Toublanc J.E., Couderc R., Petit C., Garabedian E.-N., Marlin S.;
RT   "Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of
RT   mutations in France and phenotypic heterogeneity.";
RL   Clin. Genet. 66:333-340(2004).
RN   [25]
RP   VARIANT PDS PRO-416.
RX   PubMed=15531480; DOI=10.1210/jc.2004-1013;
RA   Napiontek U., Borck G., Mueller-Forell W., Pfarr N., Bohnert A.,
RA   Keilmann A., Pohlenz J.;
RT   "Intrafamilial variability of the deafness and goiter phenotype in Pendred
RT   syndrome caused by a T416P mutation in the SLC26A4 gene.";
RL   J. Clin. Endocrinol. Metab. 89:5347-5351(2004).
RN   [26]
RP   VARIANTS PDS ARG-514 AND SER-530, AND VARIANTS GLY-609 AND CYS-776.
RX   PubMed=15689455; DOI=10.1136/jmg.2004.024208;
RA   Pryor S.P., Madeo A.C., Reynolds J.C., Sarlis N.J., Arnos K.S., Nance W.E.,
RA   Yang Y., Zalewski C.K., Brewer C.C., Butman J.A., Griffith A.J.;
RT   "SLC26A4/PDS genotype-phenotype correlation in hearing loss with
RT   enlargement of the vestibular aqueduct (EVA): evidence that Pendred
RT   syndrome and non-syndromic EVA are distinct clinical and genetic
RT   entities.";
RL   J. Med. Genet. 42:159-165(2005).
RN   [27]
RP   VARIANT CYS-776, AND CHARACTERIZATION OF VARIANT CYS-776.
RX   PubMed=16684826; DOI=10.1210/jc.2006-0142;
RA   Pfarr N., Borck G., Turk A., Napiontek U., Keilmann A., Mueller-Forell W.,
RA   Kopp P., Pohlenz J.;
RT   "Goitrous congenital hypothyroidism and hearing impairment associated with
RT   mutations in the TPO and SLC26A4/PDS genes.";
RL   J. Clin. Endocrinol. Metab. 91:2678-2681(2006).
RN   [28]
RP   VARIANT MET-99.
RX   PubMed=17146393; DOI=10.1097/01.mlg.0000244389.68568.a7;
RA   Propst E.J., Blaser S., Stockley T.L., Harrison R.V., Gordon K.A.,
RA   Papsin B.C.;
RT   "Temporal bone imaging in GJB2 deafness.";
RL   Laryngoscope 116:2178-2186(2006).
RN   [29]
RP   VARIANTS PDS PHE-138; VAL-209; PRO-236; GLY-384; MET-402; PRO-416; TRP-445;
RP   ARG-514; HIS-530; TYR-565 AND THR-775, VARIANTS DFNB4 LEU-335; MET-402;
RP   SER-530 AND THR-775, AND VARIANTS SER-597; GLY-609 AND CYS-776.
RX   PubMed=19204907; DOI=10.1002/humu.20884;
RA   Choi B.Y., Stewart A.K., Madeo A.C., Pryor S.P., Lenhard S., Kittles R.,
RA   Eisenman D., Kim H.J., Niparko J., Thomsen J., Arnos K.S., Nance W.E.,
RA   King K.A., Zalewski C.K., Brewer C.C., Shawker T., Reynolds J.C.,
RA   Butman J.A., Karniski L.P., Alper S.L., Griffith A.J.;
RT   "Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss
RT   and enlargement of the vestibular aqueduct: genotype-phenotype correlation
RT   or coincidental polymorphisms?";
RL   Hum. Mutat. 30:599-608(2009).
RN   [30]
RP   VARIANT DFNB4 ILE-281, AND VARIANTS VAL-6; ALA-144; THR-185 AND SER-597.
RX   PubMed=20597900; DOI=10.1111/j.1469-1809.2010.00581.x;
RA   Pourova R., Janousek P., Jurovcik M., Dvorakova M., Malikova M.,
RA   Raskova D., Bendova O., Leonardi E., Murgia A., Kabelka Z., Astl J.,
RA   Seeman P.;
RT   "Spectrum and frequency of SLC26A4 mutations among Czech patients with
RT   early hearing loss with and without enlarged vestibular aqueduct (EVA).";
RL   Ann. Hum. Genet. 74:299-307(2010).
RN   [31]
RP   VARIANT DFNB4 LYS-558.
RX   PubMed=20108392;
RA   Alasti F., Peeters N., Wuyts W., Sanati M.H., Van Camp G.;
RT   "Novel human pathological mutations. Gene symbol: SLC26A4. Disease:
RT   Deafness, non-syndromic, autosomal recessive.";
RL   Hum. Genet. 127:116-116(2010).
RN   [32]
RP   VARIANTS DFNB4 THR-185 AND LEU-335, VARIANTS LEU-335; GLY-384; TRP-445;
RP   SER-597; CYS-775 AND CYS-776, AND CHARACTERIZATION OF VARIANT DFNB4
RP   THR-185.
RX   PubMed=24051746; DOI=10.1001/jamaoto.2013.4185;
RA   Chattaraj P., Reimold F.R., Muskett J.A., Shmukler B.E., Chien W.W.,
RA   Madeo A.C., Pryor S.P., Zalewski C.K., Butman J.A., Brewer C.C.,
RA   Kenna M.A., Alper S.L., Griffith A.J.;
RT   "Use of SLC26A4 mutation testing for unilateral enlargement of the
RT   vestibular aqueduct.";
RL   JAMA Otolaryngol. Head Neck Surg. 139:907-913(2013).
RN   [33]
RP   VARIANT PHE-455.
RX   PubMed=27535533; DOI=10.1038/nature19057;
RG   Exome Aggregation Consortium;
RA   Lek M., Karczewski K.J., Minikel E.V., Samocha K.E., Banks E., Fennell T.,
RA   O'Donnell-Luria A.H., Ware J.S., Hill A.J., Cummings B.B., Tukiainen T.,
RA   Birnbaum D.P., Kosmicki J.A., Duncan L.E., Estrada K., Zhao F., Zou J.,
RA   Pierce-Hoffman E., Berghout J., Cooper D.N., Deflaux N., DePristo M.,
RA   Do R., Flannick J., Fromer M., Gauthier L., Goldstein J., Gupta N.,
RA   Howrigan D., Kiezun A., Kurki M.I., Moonshine A.L., Natarajan P.,
RA   Orozco L., Peloso G.M., Poplin R., Rivas M.A., Ruano-Rubio V., Rose S.A.,
RA   Ruderfer D.M., Shakir K., Stenson P.D., Stevens C., Thomas B.P., Tiao G.,
RA   Tusie-Luna M.T., Weisburd B., Won H.H., Yu D., Altshuler D.M.,
RA   Ardissino D., Boehnke M., Danesh J., Donnelly S., Elosua R., Florez J.C.,
RA   Gabriel S.B., Getz G., Glatt S.J., Hultman C.M., Kathiresan S., Laakso M.,
RA   McCarroll S., McCarthy M.I., McGovern D., McPherson R., Neale B.M.,
RA   Palotie A., Purcell S.M., Saleheen D., Scharf J.M., Sklar P.,
RA   Sullivan P.F., Tuomilehto J., Tsuang M.T., Watkins H.C., Wilson J.G.,
RA   Daly M.J., MacArthur D.G.;
RT   "Analysis of protein-coding genetic variation in 60,706 humans.";
RL   Nature 536:285-291(2016).
RN   [34]
RP   VARIANTS DFNB4 PRO-227 AND CYS-556.
RX   PubMed=28281779; DOI=10.1089/gtmb.2016.0328;
RA   Wang R., Han S., Khan A., Zhang X.;
RT   "Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or
RT   Syndromic Hearing Loss.";
RL   Genet. Test. Mol. Biomarkers 21:316-321(2017).
CC   -!- FUNCTION: Sodium-independent transporter of chloride and iodide.
CC       {ECO:0000269|PubMed:10192399}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}. Cell membrane; Multi-pass membrane protein.
CC       Note=Localizes to the apical brush border of cells in the cortical
CC       collecting ducts of the kidney. {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O43511-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O43511-2; Sequence=VSP_056688;
CC   -!- TISSUE SPECIFICITY: High expression in adult thyroid, lower expression
CC       in adult and fetal kidney and fetal brain. Not expressed in other
CC       tissues.
CC   -!- DISEASE: Pendred syndrome (PDS) [MIM:274600]: An autosomal recessive
CC       disorder characterized by congenital sensorineural hearing loss in
CC       association with thyroid goiter. The disorder may account for up to 10%
CC       of the cases of hereditary deafness. The deafness is most often
CC       associated with a Mondini cochlear defect. Deafness occurs early,
CC       starting at birth or during the first years of life. It is bilateral,
CC       sometimes asymmetrical, fluctuant and often progressive. Thyroid
CC       perturbations, such as thyroid goiter and/or hypothyroidism appear most
CC       commonly during adolescence, but they can be congenital or appear
CC       later. {ECO:0000269|PubMed:10602116, ECO:0000269|PubMed:10718825,
CC       ECO:0000269|PubMed:10878664, ECO:0000269|PubMed:11317356,
CC       ECO:0000269|PubMed:11375792, ECO:0000269|PubMed:11748854,
CC       ECO:0000269|PubMed:11919333, ECO:0000269|PubMed:11932316,
CC       ECO:0000269|PubMed:12788906, ECO:0000269|PubMed:12974744,
CC       ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436,
CC       ECO:0000269|PubMed:15531480, ECO:0000269|PubMed:15689455,
CC       ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:9398842,
CC       ECO:0000269|PubMed:9618166, ECO:0000269|PubMed:9618167}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]: A form
CC       of non-syndromic sensorineural hearing loss. Sensorineural deafness
CC       results from damage to the neural receptors of the inner ear, the nerve
CC       pathways to the brain, or the area of the brain that receives sound
CC       information. DFNB4 is associated with an enlarged vestibular aqueduct.
CC       {ECO:0000269|PubMed:10190331, ECO:0000269|PubMed:10700480,
CC       ECO:0000269|PubMed:11748854, ECO:0000269|PubMed:12676893,
CC       ECO:0000269|PubMed:14508505, ECO:0000269|PubMed:14679580,
CC       ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:20108392,
CC       ECO:0000269|PubMed:20597900, ECO:0000269|PubMed:24051746,
CC       ECO:0000269|PubMed:28281779, ECO:0000269|PubMed:9500541}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
CC       {ECO:0000305}.
CC   -!- WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene page;
CC       URL="https://hereditaryhearingloss.org/recessive-genes";
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Pendrin entry;
CC       URL="https://en.wikipedia.org/wiki/Pendrin";
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=A missing sense - Issue 133
CC       of November 2011;
CC       URL="https://web.expasy.org/spotlight/back_issues/133";
CC   ---------------------------------------------------------------------------
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DR   EMBL; AF030880; AAC51873.1; -; mRNA.
DR   EMBL; AK294388; BAH11752.1; -; mRNA.
DR   EMBL; AC002467; AAB88773.2; -; Genomic_DNA.
DR   EMBL; AC078937; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS5746.1; -. [O43511-1]
DR   RefSeq; NP_000432.1; NM_000441.1. [O43511-1]
DR   RefSeq; XP_005250482.1; XM_005250425.2. [O43511-1]
DR   AlphaFoldDB; O43511; -.
DR   SMR; O43511; -.
DR   BioGRID; 111198; 104.
DR   STRING; 9606.ENSP00000265715; -.
DR   BindingDB; O43511; -.
DR   ChEMBL; CHEMBL4523138; -.
DR   DrugBank; DB05382; Iodine.
DR   TCDB; 2.A.53.2.17; the sulfate permease (sulp) family.
DR   iPTMnet; O43511; -.
DR   PhosphoSitePlus; O43511; -.
DR   BioMuta; SLC26A4; -.
DR   jPOST; O43511; -.
DR   MassIVE; O43511; -.
DR   PaxDb; O43511; -.
DR   PeptideAtlas; O43511; -.
DR   PRIDE; O43511; -.
DR   ProteomicsDB; 49001; -. [O43511-1]
DR   ProteomicsDB; 6414; -.
DR   Antibodypedia; 31372; 169 antibodies from 25 providers.
DR   DNASU; 5172; -.
DR   Ensembl; ENST00000644269.2; ENSP00000494017.1; ENSG00000091137.14. [O43511-1]
DR   GeneID; 5172; -.
DR   KEGG; hsa:5172; -.
DR   MANE-Select; ENST00000644269.2; ENSP00000494017.1; NM_000441.2; NP_000432.1.
DR   UCSC; uc003vep.4; human. [O43511-1]
DR   CTD; 5172; -.
DR   DisGeNET; 5172; -.
DR   GeneCards; SLC26A4; -.
DR   GeneReviews; SLC26A4; -.
DR   HGNC; HGNC:8818; SLC26A4.
DR   HPA; ENSG00000091137; Tissue enriched (thyroid).
DR   MalaCards; SLC26A4; -.
DR   MIM; 274600; phenotype.
DR   MIM; 600791; phenotype.
DR   MIM; 605646; gene.
DR   neXtProt; NX_O43511; -.
DR   OpenTargets; ENSG00000091137; -.
DR   Orphanet; 95713; Athyreosis.
DR   Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR   Orphanet; 705; Pendred syndrome.
DR   Orphanet; 95720; Thyroid hypoplasia.
DR   PharmGKB; PA35506; -.
DR   VEuPathDB; HostDB:ENSG00000091137; -.
DR   eggNOG; KOG0236; Eukaryota.
DR   GeneTree; ENSGT01050000244807; -.
DR   HOGENOM; CLU_003182_9_4_1; -.
DR   InParanoid; O43511; -.
DR   OMA; KMEQCGF; -.
DR   OrthoDB; 690428at2759; -.
DR   PhylomeDB; O43511; -.
DR   TreeFam; TF313784; -.
DR   PathwayCommons; O43511; -.
DR   Reactome; R-HSA-427601; Multifunctional anion exchangers.
DR   Reactome; R-HSA-5619046; Defective SLC26A4 causes Pendred syndrome (PDS).
DR   SignaLink; O43511; -.
DR   SIGNOR; O43511; -.
DR   BioGRID-ORCS; 5172; 13 hits in 1068 CRISPR screens.
DR   GeneWiki; Pendrin; -.
DR   GenomeRNAi; 5172; -.
DR   Pharos; O43511; Tbio.
DR   PRO; PR:O43511; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; O43511; protein.
DR   Bgee; ENSG00000091137; Expressed in palpebral conjunctiva and 122 other tissues.
DR   ExpressionAtlas; O43511; baseline and differential.
DR   Genevisible; O43511; HS.
DR   GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
DR   GO; GO:0031526; C:brush border membrane; ISS:UniProtKB.
DR   GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
DR   GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
DR   GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0015301; F:anion:anion antiporter activity; IBA:GO_Central.
DR   GO; GO:0015106; F:bicarbonate transmembrane transporter activity; IBA:GO_Central.
DR   GO; GO:0015108; F:chloride transmembrane transporter activity; IBA:GO_Central.
DR   GO; GO:0015111; F:iodide transmembrane transporter 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:0015698; P:inorganic anion transport; TAS:ProtInc.
DR   GO; GO:0006811; P:ion transport; TAS:Reactome.
DR   GO; GO:0006885; P:regulation of pH; ISS:UniProtKB.
DR   GO; GO:0032880; P:regulation of protein localization; ISS:UniProtKB.
DR   GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR   GO; GO:0008272; P:sulfate transport; TAS:ProtInc.
DR   Gene3D; 3.30.750.24; -; 1.
DR   InterPro; IPR030285; Pendrin.
DR   InterPro; IPR018045; S04_transporter_CS.
DR   InterPro; IPR011547; SLC26A/SulP_dom.
DR   InterPro; IPR001902; SLC26A/SulP_fam.
DR   InterPro; IPR002645; STAS_dom.
DR   InterPro; IPR036513; STAS_dom_sf.
DR   PANTHER; PTHR11814; PTHR11814; 1.
DR   PANTHER; PTHR11814:SF33; PTHR11814:SF33; 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   Alternative splicing; Cell membrane; Chloride; Deafness; Disease variant;
KW   Membrane; Non-syndromic deafness; Reference proteome; Transmembrane;
KW   Transmembrane helix; Transport.
FT   CHAIN           1..780
FT                   /note="Pendrin"
FT                   /id="PRO_0000080164"
FT   TOPO_DOM        1..87
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        88..108
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        109
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        110..130
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        131..135
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        136..156
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        157..191
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        192..212
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        213..218
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        219..239
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        240..263
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        264..284
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        285..295
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        296..316
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        317..344
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        345..365
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        366..384
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        385..405
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        406..421
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        422..442
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        443..448
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        449..469
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        470..486
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        487..507
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        508..780
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          535..729
FT                   /note="STAS"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00198"
FT   VAR_SEQ         1..431
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_056688"
FT   VARIANT         6
FT                   /note="G -> V (in dbSNP:rs111033423)"
FT                   /evidence="ECO:0000269|PubMed:20597900"
FT                   /id="VAR_064988"
FT   VARIANT         24
FT                   /note="R -> G (in Pendred syndrome/deafness individuals;
FT                   dbSNP:rs1268256689)"
FT                   /evidence="ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021638"
FT   VARIANT         28
FT                   /note="S -> R (in PDS and DFNB4; dbSNP:rs539699299)"
FT                   /evidence="ECO:0000269|PubMed:11919333,
FT                   ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021639"
FT   VARIANT         29
FT                   /note="E -> Q (in PDS; dbSNP:rs111033205)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021640"
FT   VARIANT         78
FT                   /note="Y -> C (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021641"
FT   VARIANT         90
FT                   /note="S -> L (in DFNB4; dbSNP:rs370588279)"
FT                   /evidence="ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021642"
FT   VARIANT         99
FT                   /note="T -> M (in dbSNP:rs141142414)"
FT                   /evidence="ECO:0000269|PubMed:17146393"
FT                   /id="VAR_064989"
FT   VARIANT         102
FT                   /note="G -> R (in PDS; fails to localize to cell membrane;
FT                   abolishes iodide transport; dbSNP:rs1219724284)"
FT                   /evidence="ECO:0000269|PubMed:11932316"
FT                   /id="VAR_021643"
FT   VARIANT         104
FT                   /note="A -> V (in Pendred syndrome/deafness individuals;
FT                   dbSNP:rs1203167658)"
FT                   /evidence="ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021644"
FT   VARIANT         105
FT                   /note="Y -> C (in PDS; dbSNP:rs1442599990)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021645"
FT   VARIANT         106
FT                   /note="A -> D (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021646"
FT   VARIANT         117
FT                   /note="L -> F (in DFNB4 and PDS; does not affect protein
FT                   localization to cell membrane; does not affect iodide
FT                   transport; dbSNP:rs145254330)"
FT                   /evidence="ECO:0000269|PubMed:10700480,
FT                   ECO:0000269|PubMed:11932316"
FT                   /id="VAR_021647"
FT   VARIANT         123
FT                   /note="P -> S (in DFNB4; dbSNP:rs984967571)"
FT                   /evidence="ECO:0000269|PubMed:14508505"
FT                   /id="VAR_027238"
FT   VARIANT         132
FT                   /note="T -> I (in DFNB4; dbSNP:rs1554354370)"
FT                   /evidence="ECO:0000269|PubMed:11748854"
FT                   /id="VAR_021648"
FT   VARIANT         133
FT                   /note="S -> T (in PDS; dbSNP:rs121908365)"
FT                   /evidence="ECO:0000269|PubMed:11919333,
FT                   ECO:0000269|PubMed:12788906"
FT                   /id="VAR_021649"
FT   VARIANT         137
FT                   /note="S -> P (in PDS; dbSNP:rs1554354382)"
FT                   /evidence="ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021650"
FT   VARIANT         138
FT                   /note="V -> F (in PDS; fails to localize to cell membrane;
FT                   abolishes iodide transport; dbSNP:rs111033199)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:11375792, ECO:0000269|PubMed:11932316,
FT                   ECO:0000269|PubMed:12788906, ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:9618166, ECO:0000269|PubMed:9618167"
FT                   /id="VAR_021651"
FT   VARIANT         139
FT                   /note="G -> A (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:9618166"
FT                   /id="VAR_021652"
FT   VARIANT         144
FT                   /note="V -> A (found at heterozygosity in a patient with
FT                   non-syndromic deafness; uncertain pathological
FT                   significance; dbSNP:rs772023020)"
FT                   /evidence="ECO:0000269|PubMed:20597900"
FT                   /id="VAR_064990"
FT   VARIANT         147
FT                   /note="M -> V (in DFNB4; dbSNP:rs760413427)"
FT                   /evidence="ECO:0000269|PubMed:14508505"
FT                   /id="VAR_027239"
FT   VARIANT         185
FT                   /note="R -> T (in DFNB4; also found at heterozygosity in a
FT                   patient with non-syndromic deafness; uncertain pathological
FT                   significance; may affect subcellular location at the plasma
FT                   membrane; dbSNP:rs542620119)"
FT                   /evidence="ECO:0000269|PubMed:20597900"
FT                   /id="VAR_064991"
FT   VARIANT         193
FT                   /note="T -> I (in PDS; dbSNP:rs111033348)"
FT                   /evidence="ECO:0000269|PubMed:10878664,
FT                   ECO:0000269|PubMed:15355436"
FT                   /id="VAR_011623"
FT   VARIANT         209
FT                   /note="G -> V (in DFNB4 and PDS; severely reduces iodide
FT                   transport without affecting protein localization to cell
FT                   membrane; dbSNP:rs111033303)"
FT                   /evidence="ECO:0000269|PubMed:10190331,
FT                   ECO:0000269|PubMed:10700480, ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:9618166"
FT                   /id="VAR_007440"
FT   VARIANT         227
FT                   /note="A -> P (in DFNB4)"
FT                   /evidence="ECO:0000269|PubMed:28281779"
FT                   /id="VAR_079503"
FT   VARIANT         236
FT                   /note="L -> P (in PDS and DFNB4; common mutation; fails to
FT                   localize to cell membrane; abolishes iodide transport;
FT                   dbSNP:rs80338848)"
FT                   /evidence="ECO:0000269|PubMed:10700480,
FT                   ECO:0000269|PubMed:11317356, ECO:0000269|PubMed:11932316,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436,
FT                   ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:9618166,
FT                   ECO:0000269|PubMed:9618167"
FT                   /id="VAR_007441"
FT   VARIANT         239
FT                   /note="V -> D (in PDS and DFNB4; dbSNP:rs111033256)"
FT                   /evidence="ECO:0000269|PubMed:12676893,
FT                   ECO:0000269|PubMed:12974744"
FT                   /id="VAR_021653"
FT   VARIANT         252
FT                   /note="S -> P (in DFNB4; dbSNP:rs1315422549)"
FT                   /evidence="ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021654"
FT   VARIANT         271
FT                   /note="D -> H (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:9618166"
FT                   /id="VAR_021655"
FT   VARIANT         281
FT                   /note="V -> I (in DFNB4; dbSNP:rs727505080)"
FT                   /evidence="ECO:0000269|PubMed:20597900"
FT                   /id="VAR_064992"
FT   VARIANT         301
FT                   /note="P -> L (in dbSNP:rs34373141)"
FT                   /id="VAR_053663"
FT   VARIANT         324
FT                   /note="N -> Y (in dbSNP:rs36039758)"
FT                   /evidence="ECO:0000269|PubMed:14679580"
FT                   /id="VAR_053664"
FT   VARIANT         335
FT                   /note="F -> L (in PDS and DFNB4; dbSNP:rs111033212)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:24051746"
FT                   /id="VAR_021656"
FT   VARIANT         369
FT                   /note="K -> E (in DFNB4; dbSNP:rs121908361)"
FT                   /evidence="ECO:0000269|PubMed:10190331"
FT                   /id="VAR_007442"
FT   VARIANT         372
FT                   /note="A -> V (in DFNB4; dbSNP:rs121908364)"
FT                   /evidence="ECO:0000269|PubMed:10190331"
FT                   /id="VAR_007443"
FT   VARIANT         384
FT                   /note="E -> G (in PDS; also found at heterozygosity in a
FT                   patient with hearing loss and unilateral enlargement of the
FT                   vestibular aqueduct; uncertain pathological significance;
FT                   dbSNP:rs111033244)"
FT                   /evidence="ECO:0000269|PubMed:12788906,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:24051746, ECO:0000269|PubMed:9618167"
FT                   /id="VAR_007444"
FT   VARIANT         391
FT                   /note="S -> N (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021657"
FT   VARIANT         392
FT                   /note="N -> Y (in DFNB4; dbSNP:rs201562855)"
FT                   /evidence="ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021658"
FT   VARIANT         402
FT                   /note="V -> M (in PDS and DFNB4; dbSNP:rs397516414)"
FT                   /evidence="ECO:0000269|PubMed:19204907"
FT                   /id="VAR_058580"
FT   VARIANT         409
FT                   /note="R -> H (in PDS; dbSNP:rs111033305)"
FT                   /evidence="ECO:0000269|PubMed:11919333,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436,
FT                   ECO:0000269|PubMed:9618166, ECO:0000269|PubMed:9618167"
FT                   /id="VAR_021659"
FT   VARIANT         409
FT                   /note="R -> P (in DFNB4; dbSNP:rs111033305)"
FT                   /evidence="ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021660"
FT   VARIANT         410
FT                   /note="T -> M (in DFNB4 and PDS; fails to localize to cell
FT                   membrane; abolishes iodide transport; dbSNP:rs111033220)"
FT                   /evidence="ECO:0000269|PubMed:10700480,
FT                   ECO:0000269|PubMed:11748854, ECO:0000269|PubMed:11919333,
FT                   ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:12676893,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436,
FT                   ECO:0000269|PubMed:9618167"
FT                   /id="VAR_021661"
FT   VARIANT         411
FT                   /note="A -> P (in PDS; dbSNP:rs1293971731)"
FT                   /evidence="ECO:0000269|PubMed:11375792"
FT                   /id="VAR_021662"
FT   VARIANT         416
FT                   /note="T -> P (in PDS and DFNB4; common mutation;
FT                   dbSNP:rs28939086)"
FT                   /evidence="ECO:0000269|PubMed:10700480,
FT                   ECO:0000269|PubMed:11317356, ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:15531480,
FT                   ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:9618166,
FT                   ECO:0000269|PubMed:9618167"
FT                   /id="VAR_007445"
FT   VARIANT         421
FT                   /note="Q -> R (in Pendred syndrome/deafness individuals;
FT                   dbSNP:rs201660407)"
FT                   /evidence="ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021663"
FT   VARIANT         429
FT                   /note="Missing (in Pendred syndrome/deafness individuals)"
FT                   /evidence="ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021664"
FT   VARIANT         445
FT                   /note="L -> W (in PDS and DFNB4; also found at
FT                   heterozygosity in a patient with hearing loss and
FT                   unilateral enlargement of the vestibular aqueduct;
FT                   uncertain pathological significance; dbSNP:rs111033307)"
FT                   /evidence="ECO:0000269|PubMed:10602116,
FT                   ECO:0000269|PubMed:10700480, ECO:0000269|PubMed:11748854,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436,
FT                   ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:24051746,
FT                   ECO:0000269|PubMed:9618166"
FT                   /id="VAR_011624"
FT   VARIANT         446
FT                   /note="Q -> R (in DFNB4 and PDS; fails to localize to cell
FT                   membrane; abolishes iodide transport; dbSNP:rs768471577)"
FT                   /evidence="ECO:0000269|PubMed:10700480,
FT                   ECO:0000269|PubMed:11932316"
FT                   /id="VAR_021665"
FT   VARIANT         455
FT                   /note="I -> F (in dbSNP:rs375576481)"
FT                   /evidence="ECO:0000269|PubMed:12676893,
FT                   ECO:0000269|PubMed:27535533"
FT                   /id="VAR_021666"
FT   VARIANT         457
FT                   /note="N -> K (in DFNB4; dbSNP:rs1554359670)"
FT                   /evidence="ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021667"
FT   VARIANT         480
FT                   /note="V -> D (in PDS; retains residual transport
FT                   function)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021668"
FT   VARIANT         490
FT                   /note="I -> L (in DFNB4; dbSNP:rs200511789)"
FT                   /evidence="ECO:0000269|PubMed:9500541"
FT                   /id="VAR_021669"
FT   VARIANT         497
FT                   /note="G -> S (in DFNB4; dbSNP:rs111033308)"
FT                   /evidence="ECO:0000269|PubMed:9500541"
FT                   /id="VAR_007446"
FT   VARIANT         508
FT                   /note="T -> N (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:10718825"
FT                   /id="VAR_027240"
FT   VARIANT         514
FT                   /note="Q -> R (in PDS; dbSNP:rs111033316)"
FT                   /evidence="ECO:0000269|PubMed:15689455,
FT                   ECO:0000269|PubMed:19204907"
FT                   /id="VAR_027241"
FT   VARIANT         530
FT                   /note="Y -> H (in PDS; dbSNP:rs111033254)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:12788906, ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:9618167"
FT                   /id="VAR_021670"
FT   VARIANT         530
FT                   /note="Y -> S (in PDS and DFNB4; dbSNP:rs747636919)"
FT                   /evidence="ECO:0000269|PubMed:15689455,
FT                   ECO:0000269|PubMed:19204907"
FT                   /id="VAR_027242"
FT   VARIANT         552
FT                   /note="S -> I (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021671"
FT   VARIANT         556
FT                   /note="Y -> C (in PDS and DFNB4; partially affects protein
FT                   localization to cell membrane; abolishes iodide transport;
FT                   dbSNP:rs763006761)"
FT                   /evidence="ECO:0000269|PubMed:11932316,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:28281779,
FT                   ECO:0000269|PubMed:9618167"
FT                   /id="VAR_021672"
FT   VARIANT         556
FT                   /note="Y -> H (in PDS)"
FT                   /evidence="ECO:0000269|PubMed:11748854"
FT                   /id="VAR_021673"
FT   VARIANT         558
FT                   /note="N -> K (in DFNB4)"
FT                   /evidence="ECO:0000269|PubMed:20108392"
FT                   /id="VAR_064993"
FT   VARIANT         565
FT                   /note="C -> Y (in PDS; dbSNP:rs111033257)"
FT                   /evidence="ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:9618166"
FT                   /id="VAR_021674"
FT   VARIANT         597
FT                   /note="L -> S (found at heterozygosity in a patient with
FT                   hearing loss and unilateral enlargement of the vestibular
FT                   aqueduct; uncertain pathological significance;
FT                   dbSNP:rs55638457)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:11919333, ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:20597900, ECO:0000269|PubMed:24051746"
FT                   /id="VAR_021675"
FT   VARIANT         609
FT                   /note="V -> G (in dbSNP:rs17154335)"
FT                   /evidence="ECO:0000269|PubMed:15689455,
FT                   ECO:0000269|PubMed:19204907"
FT                   /id="VAR_027243"
FT   VARIANT         653
FT                   /note="V -> A (in PDS; retains residual transport function;
FT                   dbSNP:rs1554361015)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021676"
FT   VARIANT         666
FT                   /note="S -> F (in DFNB4; dbSNP:rs1584337274)"
FT                   /evidence="ECO:0000269|PubMed:14508505"
FT                   /id="VAR_027244"
FT   VARIANT         667
FT                   /note="F -> C (in PDS; dbSNP:rs121908360)"
FT                   /evidence="ECO:0000269|PubMed:9398842"
FT                   /id="VAR_007447"
FT   VARIANT         672
FT                   /note="G -> E (in PDS; partially affects protein
FT                   localization to cell membrane; abolishes iodide transport;
FT                   dbSNP:rs111033309)"
FT                   /evidence="ECO:0000269|PubMed:11317356,
FT                   ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:14679580,
FT                   ECO:0000269|PubMed:9618167"
FT                   /id="VAR_021677"
FT   VARIANT         676
FT                   /note="L -> Q (in DFNB4; dbSNP:rs111033318)"
FT                   /evidence="ECO:0000269|PubMed:12676893"
FT                   /id="VAR_021678"
FT   VARIANT         683
FT                   /note="F -> S (in Pendred syndrome/deafness individuals;
FT                   dbSNP:rs1060499808)"
FT                   /evidence="ECO:0000269|PubMed:14679580"
FT                   /id="VAR_021679"
FT   VARIANT         687
FT                   /note="D -> Y (in dbSNP:rs35548413)"
FT                   /id="VAR_053665"
FT   VARIANT         694
FT                   /note="S -> P (in PDS; dbSNP:rs981410021)"
FT                   /evidence="ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021680"
FT   VARIANT         721
FT                   /note="T -> M (in DFNB4 and PDS; dbSNP:rs121908363)"
FT                   /evidence="ECO:0000269|PubMed:10190331,
FT                   ECO:0000269|PubMed:11748854, ECO:0000269|PubMed:12676893,
FT                   ECO:0000269|PubMed:15355436"
FT                   /id="VAR_007448"
FT   VARIANT         723
FT                   /note="H -> R (in DFNB4 and PDS; common mutation in Korea
FT                   and Japan; dbSNP:rs121908362)"
FT                   /evidence="ECO:0000269|PubMed:10190331,
FT                   ECO:0000269|PubMed:12676893, ECO:0000269|PubMed:12974744,
FT                   ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:9618166"
FT                   /id="VAR_007449"
FT   VARIANT         724
FT                   /note="D -> N (in PDS; dbSNP:rs994170964)"
FT                   /evidence="ECO:0000269|PubMed:15355436"
FT                   /id="VAR_021681"
FT   VARIANT         740
FT                   /note="G -> S (in dbSNP:rs17154353)"
FT                   /id="VAR_027245"
FT   VARIANT         775
FT                   /note="M -> C (found at heterozygosity in a patient with
FT                   hearing loss and unilateral enlargement of the vestibular
FT                   aqueduct; requires 2 nucleotide substitutions; uncertain
FT                   pathological significance)"
FT                   /evidence="ECO:0000269|PubMed:24051746"
FT                   /id="VAR_080402"
FT   VARIANT         775
FT                   /note="M -> T (in PDS and DFNB4; dbSNP:rs1562845849)"
FT                   /evidence="ECO:0000269|PubMed:19204907"
FT                   /id="VAR_058581"
FT   VARIANT         776
FT                   /note="R -> C (found at heterozygosity in a patient with
FT                   hearing loss and unilateral enlargement of the vestibular
FT                   aqueduct; unknown pathological significance; retains its
FT                   ability to transport iodide in vitro; dbSNP:rs111033255)"
FT                   /evidence="ECO:0000269|PubMed:15689455,
FT                   ECO:0000269|PubMed:16684826, ECO:0000269|PubMed:19204907,
FT                   ECO:0000269|PubMed:24051746"
FT                   /id="VAR_027246"
SQ   SEQUENCE   780 AA;  85723 MW;  3AEF5D720B155CE0 CRC64;
     MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR
     AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA
     FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA
     RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL
     NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI
     PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA
     YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT
     QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV
     IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE
     EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT
     KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL
     DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL
     TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS
 
 
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