CAD23_HUMAN
ID CAD23_HUMAN Reviewed; 3354 AA.
AC Q9H251; C4IXS9; F6U049; Q5QGS1; Q5QGS2; Q5QGS5; Q5QGS6; Q5XKN2; Q6UWW1;
AC Q96JL3; Q9H4K9;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2012, sequence version 2.
DT 03-AUG-2022, entry version 204.
DE RecName: Full=Cadherin-23 {ECO:0000303|PubMed:11138009};
DE AltName: Full=Otocadherin {ECO:0000303|PubMed:15537665};
DE Flags: Precursor;
GN Name=CDH23 {ECO:0000303|PubMed:11138009, ECO:0000312|HGNC:HGNC:13733};
GN Synonyms=KIAA1774 {ECO:0000303|PubMed:11347906},
GN KIAA1812 {ECO:0000303|PubMed:11347906};
GN ORFNames=UNQ1894/PRO4340 {ECO:0000303|PubMed:12975309};
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], FUNCTION, ALTERNATIVE SPLICING, TISSUE
RP SPECIFICITY, VARIANTS USH1D MET-1281 DEL; HIS-1496 AND GLN-1746, AND
RP VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; CYS-1349; ASP-1351; THR-1575;
RP SER-1671; ILE-1675; GLN-1804; SER-1999; LYS-2044; GLN-2358; LEU-2380;
RP GLN-2588 AND LEU-3125.
RX PubMed=11138009; DOI=10.1038/83667;
RA Bolz H., Von Brederlow B., Ramirez A., Bryda E.C., Kutsche K.,
RA Nothwang H.G., Seeliger M., Del C.-Salcedo Cabrera M., Vila Caballero M.,
RA Pelaez Molina O., Gal A., Kubisch C.;
RT "Mutation of CDH23, encoding a new member of the cadherin gene family,
RT causes Usher syndrome type 1D.";
RL Nat. Genet. 27:108-112(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), AND VARIANT CYS-3.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 9; 10 AND 11).
RC TISSUE=Retina;
RX PubMed=15882574; DOI=10.1016/j.ydbio.2005.01.015;
RA Lagziel A., Ahmed Z.M., Schultz J.M., Morell R.J., Belyantseva I.A.,
RA Friedman T.B.;
RT "Spatiotemporal pattern and isoforms of cadherin 23 in wild type and
RT waltzer mice during inner ear hair cell development.";
RL Dev. Biol. 280:295-306(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RC TISSUE=Eye;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-3354 (ISOFORM 6), AND VARIANT
RP ASN-496.
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 803-3354, ALTERNATIVE SPLICING, AND VARIANTS
RP DFNB12 ASN-990; ASP-1351; THR-1575; ASN-2045; ASN-2202; ASN-2950; CYS-2956
RP AND THR-3059.
RX PubMed=11090341; DOI=10.1086/316954;
RA Bork J.M., Peters L.M., Riazuddin S., Bernstein S.L., Ahmed Z.M.,
RA Ness S.L., Polomeno R., Ramesh A., Schloss M., Srisailpathy C.R.S.,
RA Wayne S., Bellman S., Desmukh D., Ahmed Z., Khan S.N., Kaloustian V.M.D.,
RA Li X.C., Lalwani A., Riazuddin S., Bitner-Glindzicz M., Nance W.E.,
RA Liu X.-Z., Wistow G., Smith R.J.H., Griffith A.J., Wilcox E.R.,
RA Friedman T.B., Morell R.J.;
RT "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are
RT caused by allelic mutations of the novel cadherin-like gene CDH23.";
RL Am. J. Hum. Genet. 68:26-37(2001).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2173-3354 (ISOFORM 4).
RC TISSUE=Brain;
RX PubMed=11597768; DOI=10.1016/s0169-328x(01)00218-2;
RA Nakajima D., Nakayama M., Kikuno R., Hirosawa M., Nagase T., Ohara O.;
RT "Identification of three novel non-classical cadherin genes through
RT comprehensive analysis of large cDNAs.";
RL Brain Res. Mol. Brain Res. 94:85-95(2001).
RN [9]
RP INTERACTION WITH USH1G.
RX PubMed=21436032; DOI=10.1073/pnas.1017114108;
RA Caberlotto E., Michel V., Foucher I., Bahloul A., Goodyear R.J.,
RA Pepermans E., Michalski N., Perfettini I., Alegria-Prevot O.,
RA Chardenoux S., Do Cruzeiro M., Hardelin J.P., Richardson G.P., Avan P.,
RA Weil D., Petit C.;
RT "Usher type 1G protein sans is a critical component of the tip-link
RT complex, a structure controlling actin polymerization in stereocilia.";
RL Proc. Natl. Acad. Sci. U.S.A. 108:5825-5830(2011).
RN [10]
RP STRUCTURE BY NMR OF 3183-3354 IN COMPLEX WITH USH1C, AND INTERACTION WITH
RP USH1C.
RX PubMed=19297620; DOI=10.1073/pnas.0901819106;
RA Pan L., Yan J., Wu L., Zhang M.;
RT "Assembling stable hair cell tip link complex via multidentate interactions
RT between harmonin and cadherin 23.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009).
RN [11]
RP VARIANTS DFNB12 GLY-124; SER-452; GLN-480; GLN-582; TRP-1060; ASP-1186;
RP PRO-1586; LYS-1595; ASN-1846; TRP-2465 AND HIS-2608, VARIANTS USH1D
RP PRO-484; ARG-1206; ALA-1209; GLY-2517; SER-2744; GLY-2833 AND HIS-3175, AND
RP VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; GLN-1437; MET-1620; ILE-1675;
RP GLN-1804; ILE-1887; SER-1999; LYS-2044; GLN-2066; ILE-2283; GLN-2358;
RP LEU-2380; GLN-2588; GLU-2933; ASN-2954 AND SER-2962.
RX PubMed=12075507; DOI=10.1086/341558;
RA Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R., Orten D.J.,
RA Ohliger S.J., Riazuddin S., Morell R.J., Khan S., Riazuddin S., Kremer H.,
RA van Hauwe P., Moller C.G., Cremers C.W.R.J., Ayuso C., Heckenlively J.R.,
RA Rohrschneider K., Spandau U., Greenberg J., Ramesar R., Reardon W.,
RA Bitoun P., Millan J., Legge R., Friedman T.B., Kimberling W.J.;
RT "CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse
RT families with Usher syndrome and nonsyndromic deafness.";
RL Am. J. Hum. Genet. 71:262-275(2002).
RN [12]
RP VARIANTS DFNB12 ASN-1341 AND ASN-2148, AND VARIANTS ILE-2283; GLN-2358 AND
RP LEU-2380.
RX PubMed=12522556; DOI=10.1007/s00439-002-0833-0;
RA de Brouwer A.P.M., Pennings R.J.E., Roeters M., Van Hauwe P., Astuto L.M.,
RA Hoefsloot L.H., Huygen P.L.M., van den Helm B., Deutman A.F., Bork J.M.,
RA Kimberling W.J., Cremers F.P.M., Cremers C.W.R.J., Kremer H.;
RT "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation
RT in GJB2 cause hearing loss in one family.";
RL Hum. Genet. 112:156-163(2003).
RN [13]
RP VARIANTS USH1D THR-366; ALA-1209; GLN-1507; TRP-3189 AND PHE-3245.
RX PubMed=15660226; DOI=10.1007/s00439-004-1227-2;
RA Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E.,
RA Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M., Balkany T.,
RA Liu X.Z.;
RT "Characterization of Usher syndrome type I gene mutations in an Usher
RT syndrome patient population.";
RL Hum. Genet. 116:292-299(2005).
RN [14]
RP VARIANT USH1DF TRP-3189.
RX PubMed=15537665; DOI=10.1093/hmg/ddi010;
RA Zheng Q.Y., Yan D., Ouyang X.M., Du L.L., Yu H., Chang B., Johnson K.R.,
RA Liu X.Z.;
RT "Digenic inheritance of deafness caused by mutations in genes encoding
RT cadherin 23 and protocadherin 15 in mice and humans.";
RL Hum. Mol. Genet. 14:103-111(2005).
RN [15]
RP VARIANT DFNB12 SER-1888.
RX PubMed=15829536; DOI=10.1056/nejmoa043899;
RA Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R.,
RA Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C.,
RA Penniston J.T., Griffith A.J.;
RT "Modification of human hearing loss by plasma-membrane calcium pump
RT PMCA2.";
RL N. Engl. J. Med. 352:1557-1564(2005).
RN [16]
RP ERRATUM OF PUBMED:15829536.
RA Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R.,
RA Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C.,
RA Penniston J.T., Griffith A.J.;
RL N. Engl. J. Med. 352:2362-2362(2005).
RN [17]
RP VARIANTS USH1D LYS-247 AND SER-2017, VARIANT DFNB12 TRP-1060, AND FUNCTION.
RX PubMed=16679490; DOI=10.1136/jmg.2006.041954;
RA Roux A.-F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A.,
RA Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S., Claustres M.;
RT "Survey of the frequency of USH1 gene mutations in a cohort of Usher
RT patients shows the importance of cadherin 23 and protocadherin 15 genes and
RT establishes a detection rate of above 90%.";
RL J. Med. Genet. 43:763-768(2006).
RN [18]
RP VARIANTS DFNB12 LEU-240; GLN-301; PRO-1716 AND TRP-2029, AND VARIANTS
RP TRP-1417; ILE-1711; MET-1807; ASN-1876; ILE-1908; CYS-2171; PRO-2227;
RP ILE-2283; PRO-2473; HIS-2489; VAL-2669; VAL-2801 AND CYS-3175.
RX PubMed=17850630; DOI=10.1111/j.1399-0004.2007.00833.x;
RA Wagatsuma M., Kitoh R., Suzuki H., Fukuoka H., Takumi Y., Usami S.;
RT "Distribution and frequencies of CDH23 mutations in Japanese patients with
RT non-syndromic hearing loss.";
RL Clin. Genet. 72:339-344(2007).
RN [19]
RP INVOLVEMENT IN DFNB12, AND VARIANT DFNB12 SER-1999.
RX PubMed=17234811; DOI=10.1073/pnas.0609775104;
RA Ficarella R., Di Leva F., Bortolozzi M., Ortolano S., Donaudy F.,
RA Petrillo M., Melchionda S., Lelli A., Domi T., Fedrizzi L., Lim D.,
RA Shull G.E., Gasparini P., Brini M., Mammano F., Carafoli E.;
RT "A functional study of plasma-membrane calcium-pump isoform 2 mutants
RT causing digenic deafness.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:1516-1521(2007).
RN [20]
RP VARIANTS USH1D THR-366; TYR-755; ILE-1090; SER-1098; HIS-1496; LEU-1788;
RP TRP-1912; ASN-1930; SER-2017; VAL-2376; ILE-2530; SER-2771 AND ALA-2968,
RP AND VARIANTS ALA-490; ASN-496; ILE-746; GLY-944; LYS-960; THR-1222;
RP GLN-1236; SER-1282; CYS-1349; ASP-1351; GLN-1437; MET-1520; THR-1574;
RP ILE-1675; SER-1999; ILE-2283; LEU-2380; GLN-2588 AND LEU-3125.
RX PubMed=18429043; DOI=10.1002/humu.20761;
RA Oshima A., Jaijo T., Aller E., Millan J.M., Carney C., Usami S., Moller C.,
RA Kimberling W.J.;
RT "Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type
RT I.";
RL Hum. Mutat. 29:E37-E46(2008).
RN [21]
RP VARIANTS DFNB12 LEU-240; GLN-301; LYS-956; MET-1368; TRP-1417; ALA-1626;
RP PRO-1716; TRP-2029; LYS-2287 AND LYS-2438, AND VARIANTS ASN-160; ILE-803;
RP ILE-1415; GLY-1443; TRP-1588; ILE-1711; MET-1807; ASN-1876; ILE-1908;
RP VAL-2130; CYS-2171; PRO-2227; PRO-2473; VAL-2669; VAL-2801; SER-2912 AND
RP CYS-3175.
RX PubMed=22899989; DOI=10.1371/journal.pone.0040366;
RA Miyagawa M., Nishio S.Y., Usami S.;
RT "Prevalence and clinical features of hearing loss patients with CDH23
RT mutations: a large cohort study.";
RL PLoS ONE 7:E40366-E40366(2012).
RN [22]
RP VARIANTS DFNB12 LEU-240; SER-342 AND LYS-1595, AND VARIANTS SER-361;
RP MET-424; ASN-428; ALA-490; ASN-496; GLN-964; HIS-1010; SER-1118; ALA-1335;
RP ASP-1351; GLN-1437; THR-1575; TRP-1588; ILE-1675; GLN-1804; GLU-1806;
RP SER-1999; LYS-2044; ILE-2283; GLN-2358; LEU-2380; VAL-2531; VAL-2801;
RP THR-3080 AND LEU-3125.
RX PubMed=24767429; DOI=10.1186/1471-2350-15-46;
RA Woo H.M., Park H.J., Park M.H., Kim B.Y., Shin J.W., Yoo W.G., Koo S.K.;
RT "Identification of CDH23 mutations in Korean families with hearing loss by
RT whole-exome sequencing.";
RL BMC Med. Genet. 15:46-46(2014).
RN [23]
RP VARIANTS GLN-192 AND THR-3062.
RX PubMed=24916380; DOI=10.1093/hmg/ddu291;
RA Xie Y.A., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C.,
RA Jhangiani S., Muzny D., Boerwinkle E., Gibbs R., Greenstein V.C.,
RA Lupski J.R., Tsang S.H., Allikmets R.;
RT "New syndrome with retinitis pigmentosa is caused by nonsense mutations in
RT retinol dehydrogenase RDH11.";
RL Hum. Mol. Genet. 23:5774-5780(2014).
RN [24]
RP VARIANTS PITA5 LEU-1379; HIS-2115; TRP-3138 AND ASN-3296.
RX PubMed=28413019; DOI=10.1016/j.ajhg.2017.03.011;
RA Zhang Q., Peng C., Song J., Zhang Y., Chen J., Song Z., Shou X., Ma Z.,
RA Peng H., Jian X., He W., Ye Z., Li Z., Wang Y., Ye H., Zhang Z., Shen M.,
RA Tang F., Chen H., Shi Z., Chen C., Chen Z., Shen Y., Wang Y., Lu S.,
RA Zhang J., Li Y., Li S., Mao Y., Zhou L., Yan H., Shi Y., Huang C., Zhao Y.;
RT "Germline mutations in CDH23, encoding cadherin-related 23, are associated
RT with both familial and sporadic pituitary adenomas.";
RL Am. J. Hum. Genet. 100:817-823(2017).
RN [25]
RP VARIANTS ILE-187 AND GLU-1806.
RX PubMed=28887846; DOI=10.1002/humu.23335;
RA Zhou X.L., He L.X., Yu L.J., Wang Y., Wang X.J., Wang E.D., Yang T.;
RT "Mutations in KARS cause early-onset hearing loss and leukoencephalopathy:
RT Potential pathogenic mechanism.";
RL Hum. Mutat. 38:1740-1750(2017).
CC -!- FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They
CC preferentially interact with themselves in a homophilic manner in
CC connecting cells. CDH23 is required for establishing and/or maintaining
CC the proper organization of the stereocilia bundle of hair cells in the
CC cochlea and the vestibule during late embryonic/early postnatal
CC development. It is part of the functional network formed by USH1C,
CC USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear
CC hair cells. Required for normal hearing. {ECO:0000269|PubMed:11138009,
CC ECO:0000269|PubMed:16679490}.
CC -!- SUBUNIT: antiparallel heterodimer with PCDH15 (By similarity).
CC Interacts with USH1C and USH1G (PubMed:19297620, PubMed:21436032).
CC {ECO:0000250|UniProtKB:Q99PF4, ECO:0000269|PubMed:19297620,
CC ECO:0000269|PubMed:21436032}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=11;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=Q9H251-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H251-2; Sequence=VSP_000645;
CC Name=3;
CC IsoId=Q9H251-3; Sequence=VSP_000646;
CC Name=4;
CC IsoId=Q9H251-4; Sequence=VSP_000647;
CC Name=5;
CC IsoId=Q9H251-5; Sequence=VSP_013268, VSP_013269;
CC Name=6;
CC IsoId=Q9H251-6; Sequence=VSP_035289, VSP_035290;
CC Name=7; Synonyms=B1;
CC IsoId=Q9H251-7; Sequence=VSP_044260;
CC Name=8;
CC IsoId=Q9H251-8; Sequence=VSP_044261, VSP_000645;
CC Name=9; Synonyms=B2;
CC IsoId=Q9H251-9; Sequence=VSP_044260, VSP_000647;
CC Name=10; Synonyms=C1;
CC IsoId=Q9H251-10; Sequence=VSP_047923, VSP_047924;
CC Name=11; Synonyms=C2;
CC IsoId=Q9H251-11; Sequence=VSP_047923, VSP_047924, VSP_000647;
CC -!- TISSUE SPECIFICITY: Particularly strong expression in the retina
CC (PubMed:11138009). Found also in the cochlea.
CC {ECO:0000269|PubMed:11138009}.
CC -!- DOMAIN: Three calcium ions are usually bound at the interface of each
CC cadherin domain and rigidify the connections, imparting a strong
CC curvature to the full-length ectodomain.
CC {ECO:0000250|UniProtKB:P12830}.
CC -!- DOMAIN: Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic
CC interaction with PCDH15. {ECO:0000250|UniProtKB:Q99PF4}.
CC -!- DISEASE: Usher syndrome 1D (USH1D) [MIM:601067]: USH is a genetically
CC heterogeneous condition characterized by the association of retinitis
CC pigmentosa with sensorineural deafness. Age at onset and differences in
CC auditory and vestibular function distinguish Usher syndrome type 1
CC (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3).
CC USH1 is characterized by profound congenital sensorineural deafness,
CC absent vestibular function and prepubertal onset of progressive
CC retinitis pigmentosa leading to blindness.
CC {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507,
CC ECO:0000269|PubMed:15660226, ECO:0000269|PubMed:16679490,
CC ECO:0000269|PubMed:18429043}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are
CC heterozygous for mutations in CDH23 and PCDH15, indicating a digenic
CC inheritance pattern. {ECO:0000269|PubMed:15537665}. Note=The disease is
CC caused by variants affecting distinct genetic loci, including the gene
CC represented in this entry.
CC -!- DISEASE: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: A
CC form of non-syndromic sensorineural hearing loss. Sensorineural
CC deafness results from damage to the neural receptors of the inner ear,
CC the nerve pathways to the brain, or the area of the brain that receives
CC sound information. {ECO:0000269|PubMed:11090341,
CC ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556,
CC ECO:0000269|PubMed:15829536, ECO:0000269|PubMed:16679490,
CC ECO:0000269|PubMed:17234811, ECO:0000269|PubMed:17850630,
CC ECO:0000269|PubMed:22899989, ECO:0000269|PubMed:24767429}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]: A
CC form of pituitary adenoma, a neoplasm of the pituitary gland and one of
CC the most common neuroendocrine tumors. Pituitary adenomas are
CC clinically classified as functional and non-functional tumors, and
CC manifest with a variety of features, including local invasion of
CC surrounding structures and excessive hormone secretion. Functional
CC pituitary adenomas are further classified by the type of hormone they
CC secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
CC adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone
CC (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
CC sporadic forms have been reported. The transmission pattern of familial
CC PITA5 is consistent with autosomal dominant inheritance with reduced
CC penetrance. {ECO:0000269|PubMed:28413019}. Note=Disease susceptibility
CC is associated with variants affecting the gene represented in this
CC entry.
CC -!- WEB RESOURCE: Name=Mutations of the CDH23 gene; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/sci-news/cdh23mut.htm";
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; AF312024; AAG48303.1; -; mRNA.
DR EMBL; AY358617; AAQ88980.1; -; mRNA.
DR EMBL; AY563161; AAT72161.1; -; mRNA.
DR EMBL; AY563162; AAT72162.1; -; mRNA.
DR EMBL; AY563165; AAT72165.1; -; mRNA.
DR EMBL; AY563166; AAT72166.1; -; mRNA.
DR EMBL; AC012469; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359183; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL731541; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL772287; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011570; AAH11570.1; -; mRNA.
DR EMBL; BC136976; AAI36977.1; -; mRNA.
DR EMBL; BC136977; AAI36978.1; -; mRNA.
DR EMBL; AB058715; BAB47441.1; -; mRNA.
DR EMBL; AY010111; AAG27034.2; -; mRNA.
DR EMBL; AB053445; BAB61902.1; -; mRNA.
DR CCDS; CCDS44429.1; -. [Q9H251-5]
DR CCDS; CCDS53540.1; -. [Q9H251-7]
DR CCDS; CCDS73146.1; -. [Q9H251-9]
DR CCDS; CCDS86100.1; -. [Q9H251-1]
DR RefSeq; NP_001165401.1; NM_001171930.1.
DR RefSeq; NP_001165402.1; NM_001171931.1.
DR RefSeq; NP_001165403.1; NM_001171932.1.
DR RefSeq; NP_001165404.1; NM_001171933.1. [Q9H251-7]
DR RefSeq; NP_001165405.1; NM_001171934.1. [Q9H251-9]
DR RefSeq; NP_001165406.1; NM_001171935.1. [Q9H251-10]
DR RefSeq; NP_001165407.1; NM_001171936.1. [Q9H251-11]
DR RefSeq; NP_071407.4; NM_022124.5. [Q9H251-1]
DR RefSeq; NP_443068.1; NM_052836.3. [Q9H251-5]
DR RefSeq; XP_016871997.1; XM_017016508.1.
DR PDB; 2KBR; NMR; -; B=3183-3200.
DR PDB; 2KBS; NMR; -; B=3347-3354.
DR PDB; 2LSR; NMR; -; B=3212-3227.
DR PDB; 5TFM; X-ray; 2.92 A; A=557-886.
DR PDB; 5VVM; X-ray; 3.54 A; A/B=2169-2505.
DR PDB; 5WJ8; X-ray; 1.86 A; A=1307-1523.
DR PDBsum; 2KBR; -.
DR PDBsum; 2KBS; -.
DR PDBsum; 2LSR; -.
DR PDBsum; 5TFM; -.
DR PDBsum; 5VVM; -.
DR PDBsum; 5WJ8; -.
DR SMR; Q9H251; -.
DR BioGRID; 122042; 67.
DR CORUM; Q9H251; -.
DR DIP; DIP-48786N; -.
DR ELM; Q9H251; -.
DR IntAct; Q9H251; 9.
DR MINT; Q9H251; -.
DR STRING; 9606.ENSP00000381768; -.
DR GlyConnect; 2025; 1 N-Linked glycan (1 site).
DR GlyGen; Q9H251; 41 sites, 2 N-linked glycans (1 site).
DR iPTMnet; Q9H251; -.
DR PhosphoSitePlus; Q9H251; -.
DR BioMuta; CDH23; -.
DR DMDM; 408359994; -.
DR jPOST; Q9H251; -.
DR MassIVE; Q9H251; -.
DR PaxDb; Q9H251; -.
DR PeptideAtlas; Q9H251; -.
DR PRIDE; Q9H251; -.
DR ProteomicsDB; 27994; -.
DR ProteomicsDB; 80489; -. [Q9H251-1]
DR ProteomicsDB; 80490; -. [Q9H251-2]
DR ProteomicsDB; 80491; -. [Q9H251-3]
DR ProteomicsDB; 80492; -. [Q9H251-4]
DR ProteomicsDB; 80493; -. [Q9H251-5]
DR ProteomicsDB; 80494; -. [Q9H251-6]
DR Antibodypedia; 2330; 277 antibodies from 35 providers.
DR DNASU; 64072; -.
DR Ensembl; ENST00000224721.12; ENSP00000224721.9; ENSG00000107736.22. [Q9H251-1]
DR Ensembl; ENST00000398788.4; ENSP00000381768.3; ENSG00000107736.22. [Q9H251-7]
DR Ensembl; ENST00000461841.7; ENSP00000473454.2; ENSG00000107736.22. [Q9H251-5]
DR Ensembl; ENST00000619887.4; ENSP00000478374.1; ENSG00000107736.22. [Q9H251-9]
DR GeneID; 64072; -.
DR KEGG; hsa:64072; -.
DR MANE-Select; ENST00000224721.12; ENSP00000224721.9; NM_022124.6; NP_071407.4.
DR UCSC; uc001jsg.5; human. [Q9H251-1]
DR CTD; 64072; -.
DR DisGeNET; 64072; -.
DR GeneCards; CDH23; -.
DR GeneReviews; CDH23; -.
DR HGNC; HGNC:13733; CDH23.
DR HPA; ENSG00000107736; Tissue enhanced (brain, ovary).
DR MalaCards; CDH23; -.
DR MIM; 276900; phenotype.
DR MIM; 601067; phenotype.
DR MIM; 601386; phenotype.
DR MIM; 605516; gene.
DR MIM; 617540; phenotype.
DR neXtProt; NX_Q9H251; -.
DR OpenTargets; ENSG00000107736; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR Orphanet; 96253; Cushing disease.
DR Orphanet; 314777; Familial isolated pituitary adenoma.
DR Orphanet; 2965; Prolactinoma.
DR Orphanet; 91347; TSH-secreting pituitary adenoma.
DR Orphanet; 231169; Usher syndrome type 1.
DR PharmGKB; PA26296; -.
DR VEuPathDB; HostDB:ENSG00000107736; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000155245; -.
DR HOGENOM; CLU_275423_0_0_1; -.
DR InParanoid; Q9H251; -.
DR OMA; ATDQCPK; -.
DR OrthoDB; 17702at2759; -.
DR TreeFam; TF320624; -.
DR PathwayCommons; Q9H251; -.
DR Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR SignaLink; Q9H251; -.
DR SIGNOR; Q9H251; -.
DR BioGRID-ORCS; 64072; 11 hits in 1070 CRISPR screens.
DR ChiTaRS; CDH23; human.
DR EvolutionaryTrace; Q9H251; -.
DR GeneWiki; CDH23; -.
DR GenomeRNAi; 64072; -.
DR Pharos; Q9H251; Tbio.
DR PRO; PR:Q9H251; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9H251; protein.
DR Bgee; ENSG00000107736; Expressed in ventricular zone and 99 other tissues.
DR ExpressionAtlas; Q9H251; baseline and differential.
DR Genevisible; Q9H251; HS.
DR GO; GO:0016342; C:catenin complex; IBA:GO_Central.
DR GO; GO:0005813; C:centrosome; IEA:Ensembl.
DR GO; GO:0098683; C:cochlear hair cell ribbon synapse; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0060091; C:kinocilium; IEA:Ensembl.
DR GO; GO:0016020; C:membrane; NAS:UniProtKB.
DR GO; GO:0001917; C:photoreceptor inner segment; IEA:Ensembl.
DR GO; GO:0098684; C:photoreceptor ribbon synapse; IEA:Ensembl.
DR GO; GO:0032420; C:stereocilium; ISS:HGNC-UCL.
DR GO; GO:0032426; C:stereocilium tip; IEA:Ensembl.
DR GO; GO:0045296; F:cadherin binding; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; IEA:Ensembl.
DR GO; GO:0006816; P:calcium ion transport; IMP:DFLAT.
DR GO; GO:0016339; P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; NAS:UniProtKB.
DR GO; GO:0098742; P:cell-cell adhesion via plasma-membrane adhesion molecules; IBA:GO_Central.
DR GO; GO:0050957; P:equilibrioception; IMP:HGNC-UCL.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC-UCL.
DR GO; GO:0048563; P:post-embryonic animal organ morphogenesis; IEA:Ensembl.
DR GO; GO:0051480; P:regulation of cytosolic calcium ion concentration; IMP:DFLAT.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0050953; P:sensory perception of light stimulus; IMP:HGNC-UCL.
DR GO; GO:0007605; P:sensory perception of sound; IMP:HGNC-UCL.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR033030; CDH23.
DR PANTHER; PTHR24025:SF18; PTHR24025:SF18; 1.
DR Pfam; PF00028; Cadherin; 24.
DR PRINTS; PR00205; CADHERIN.
DR SMART; SM00112; CA; 26.
DR SUPFAM; SSF49313; SSF49313; 27.
DR PROSITE; PS00232; CADHERIN_1; 17.
DR PROSITE; PS50268; CADHERIN_2; 27.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Calcium; Cell adhesion; Cell membrane;
KW Deafness; Disease variant; Glycoprotein; Hearing; Membrane; Metal-binding;
KW Non-syndromic deafness; Reference proteome; Repeat; Retinitis pigmentosa;
KW Sensory transduction; Signal; Transmembrane; Transmembrane helix;
KW Usher syndrome; Vision.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..3354
FT /note="Cadherin-23"
FT /id="PRO_0000003824"
FT TOPO_DOM 24..3064
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 3065..3085
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 3086..3354
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 34..132
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 133..236
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 237..348
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 349..460
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 461..561
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 562..671
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 672..784
FT /note="Cadherin 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 779..890
FT /note="Cadherin 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 891..995
FT /note="Cadherin 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 996..1102
FT /note="Cadherin 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1103..1208
FT /note="Cadherin 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1210..1313
FT /note="Cadherin 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1314..1418
FT /note="Cadherin 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1420..1527
FT /note="Cadherin 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1529..1634
FT /note="Cadherin 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1635..1744
FT /note="Cadherin 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1745..1851
FT /note="Cadherin 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1852..1959
FT /note="Cadherin 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 1960..2069
FT /note="Cadherin 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2070..2174
FT /note="Cadherin 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2175..2293
FT /note="Cadherin 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2297..2402
FT /note="Cadherin 22"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2403..2509
FT /note="Cadherin 23"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2510..2611
FT /note="Cadherin 24"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2614..2722
FT /note="Cadherin 25"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2729..2846
FT /note="Cadherin 26"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 2847..2975
FT /note="Cadherin 27"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT CARBOHYD 155
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 206
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 349
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 393
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 434
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 466
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 472
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 652
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 694
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 765
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 810
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 827
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 941
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1001
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1018
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1171
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1282
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1315
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1473
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1534
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1651
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1667
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1818
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1857
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1889
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1902
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2013
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2050
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2129
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2168
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2195
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2263
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2357
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2369
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2616
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2749
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2808
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2877
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2896
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2941
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2981
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..2240
FT /note="Missing (in isoform 7 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:15882574"
FT /id="VSP_044260"
FT VAR_SEQ 1..24
FT /note="MGRHVATSCHVAWLLVLISGCWGQ -> MRSWFQQDPMVGACTTGTRASHPK
FT (in isoform 10 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:15882574"
FT /id="VSP_047923"
FT VAR_SEQ 25..3127
FT /note="Missing (in isoform 10 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:15882574"
FT /id="VSP_047924"
FT VAR_SEQ 143
FT /note="E -> EVGATG (in isoform 8)"
FT /evidence="ECO:0000305"
FT /id="VSP_044261"
FT VAR_SEQ 379..380
FT /note="Missing (in isoform 2 and isoform 8)"
FT /evidence="ECO:0000305"
FT /id="VSP_000645"
FT VAR_SEQ 484..530
FT /note="ATDNDAGTFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYELIQRFT -> V
FT SPRFTAGPLSSPGPTVVRHPEGFCPRDLSNQGRRHPQIPELCLLVY (in isoform
FT 5)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_013268"
FT VAR_SEQ 531..3354
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_013269"
FT VAR_SEQ 1124..1212
FT /note="LKATDADEGEFGRVWYRILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHV
FT LIVEAYNHDLGPMRSSVRVIVYVEDINDEAPVFTQQQ -> EEDLASPCISPAPPRRAF
FT QSSGEKETSQFPGKELRREPGPSKAQNRAAFTEPLAEAPLLGSKQAQEERAPLPREQAQ
FT QLQGSEGEKGGP (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:11347906"
FT /id="VSP_035289"
FT VAR_SEQ 1213..3354
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:11347906"
FT /id="VSP_035290"
FT VAR_SEQ 1403
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_000646"
FT VAR_SEQ 3212..3246
FT /note="Missing (in isoform 4, isoform 9 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:11597768,
FT ECO:0000303|PubMed:15882574"
FT /id="VSP_000647"
FT VARIANT 3
FT /note="R -> C (in dbSNP:rs7902757)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12975309"
FT /id="VAR_012166"
FT VARIANT 124
FT /note="D -> G (in DFNB12; dbSNP:rs751192273)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027317"
FT VARIANT 160
FT /note="D -> N (in dbSNP:rs1057519500)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071407"
FT VARIANT 187
FT /note="V -> I (in dbSNP:rs369624952)"
FT /evidence="ECO:0000269|PubMed:28887846"
FT /id="VAR_079747"
FT VARIANT 192
FT /note="E -> Q (in dbSNP:rs199514829)"
FT /evidence="ECO:0000269|PubMed:24916380"
FT /id="VAR_072661"
FT VARIANT 240
FT /note="P -> L (in DFNB12; dbSNP:rs121908354)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989, ECO:0000269|PubMed:24767429"
FT /id="VAR_046404"
FT VARIANT 247
FT /note="E -> K (in USH1D)"
FT /evidence="ECO:0000269|PubMed:16679490"
FT /id="VAR_027318"
FT VARIANT 301
FT /note="R -> Q (in DFNB12; dbSNP:rs121908355)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046405"
FT VARIANT 342
FT /note="N -> S (in DFNB12; dbSNP:rs1451062499)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071408"
FT VARIANT 361
FT /note="A -> S (in dbSNP:rs774524441)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071409"
FT VARIANT 366
FT /note="A -> T (in USH1D; benign variant;
FT dbSNP:rs143282422)"
FT /evidence="ECO:0000269|PubMed:15660226,
FT ECO:0000269|PubMed:18429043"
FT /id="VAR_024030"
FT VARIANT 424
FT /note="V -> M (in dbSNP:rs2305207)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071410"
FT VARIANT 428
FT /note="D -> N (in dbSNP:rs188376296)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071411"
FT VARIANT 452
FT /note="N -> S (in DFNB12; dbSNP:rs375646885)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027319"
FT VARIANT 480
FT /note="L -> Q (in DFNB12; dbSNP:rs767928788)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027320"
FT VARIANT 484
FT /note="A -> P (in USH1D)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027321"
FT VARIANT 490
FT /note="G -> A (in dbSNP:rs1227049)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:18429043,
FT ECO:0000269|PubMed:24767429"
FT /id="VAR_012167"
FT VARIANT 496
FT /note="S -> N (in dbSNP:rs10999947)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:12075507,
FT ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429"
FT /id="VAR_012168"
FT VARIANT 582
FT /note="R -> Q (in DFNB12; dbSNP:rs200263980)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027322"
FT VARIANT 746
FT /note="V -> I (in dbSNP:rs550384315)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046406"
FT VARIANT 755
FT /note="H -> Y (in USH1D; dbSNP:rs181255269)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046407"
FT VARIANT 803
FT /note="V -> I"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071412"
FT VARIANT 944
FT /note="S -> G (in dbSNP:rs188098974)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046408"
FT VARIANT 956
FT /note="E -> K (in DFNB12; dbSNP:rs756147087)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071413"
FT VARIANT 960
FT /note="E -> K (in dbSNP:rs111033458)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046409"
FT VARIANT 964
FT /note="R -> Q (in dbSNP:rs376560330)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071414"
FT VARIANT 990
FT /note="D -> N (in DFNB12; dbSNP:rs771766431)"
FT /evidence="ECO:0000269|PubMed:11090341"
FT /id="VAR_012169"
FT VARIANT 1010
FT /note="R -> H (in dbSNP:rs370107953)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071415"
FT VARIANT 1060
FT /note="R -> W (in DFNB12; dbSNP:rs201536811)"
FT /evidence="ECO:0000269|PubMed:12075507,
FT ECO:0000269|PubMed:16679490"
FT /id="VAR_027323"
FT VARIANT 1090
FT /note="V -> I (in USH1D; dbSNP:rs368487578)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046410"
FT VARIANT 1098
FT /note="N -> S (in USH1D; dbSNP:rs41281310)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046411"
FT VARIANT 1118
FT /note="G -> S (in dbSNP:rs562052236)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071416"
FT VARIANT 1186
FT /note="G -> D (in DFNB12)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027324"
FT VARIANT 1206
FT /note="P -> R (in USH1D)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027325"
FT VARIANT 1209
FT /note="T -> A (in USH1D; dbSNP:rs41281314)"
FT /evidence="ECO:0000269|PubMed:12075507,
FT ECO:0000269|PubMed:15660226"
FT /id="VAR_024031"
FT VARIANT 1222
FT /note="A -> T (in dbSNP:rs41281316)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:18429043"
FT /id="VAR_012170"
FT VARIANT 1236
FT /note="R -> Q (in dbSNP:rs186990940)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046412"
FT VARIANT 1281
FT /note="Missing (in USH1D)"
FT /evidence="ECO:0000269|PubMed:11138009"
FT /id="VAR_012171"
FT VARIANT 1282
FT /note="N -> S (in dbSNP:rs149073355)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046413"
FT VARIANT 1335
FT /note="V -> A (in dbSNP:rs1364542092)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071417"
FT VARIANT 1341
FT /note="D -> N (in DFNB12; dbSNP:rs121908351)"
FT /evidence="ECO:0000269|PubMed:12522556"
FT /id="VAR_027326"
FT VARIANT 1349
FT /note="R -> C (in dbSNP:rs41281318)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:18429043"
FT /id="VAR_012172"
FT VARIANT 1351
FT /note="N -> D (in dbSNP:rs1227065)"
FT /evidence="ECO:0000269|PubMed:11090341,
FT ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:18429043,
FT ECO:0000269|PubMed:24767429"
FT /id="VAR_012173"
FT VARIANT 1368
FT /note="T -> M (in DFNB12; dbSNP:rs762247872)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071418"
FT VARIANT 1379
FT /note="R -> L (in PITA5; dbSNP:rs767004225)"
FT /evidence="ECO:0000269|PubMed:28413019"
FT /id="VAR_080381"
FT VARIANT 1415
FT /note="S -> I"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071419"
FT VARIANT 1417
FT /note="R -> W (in DFNB12; dbSNP:rs756231829)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046414"
FT VARIANT 1437
FT /note="R -> Q (in dbSNP:rs56181447)"
FT /evidence="ECO:0000269|PubMed:12075507,
FT ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429"
FT /id="VAR_027327"
FT VARIANT 1443
FT /note="A -> G"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071420"
FT VARIANT 1496
FT /note="Q -> H (in USH1D; dbSNP:rs121908347)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:18429043"
FT /id="VAR_012174"
FT VARIANT 1507
FT /note="R -> Q (in USH1D; dbSNP:rs373480195)"
FT /evidence="ECO:0000269|PubMed:15660226"
FT /id="VAR_024032"
FT VARIANT 1520
FT /note="I -> M"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046415"
FT VARIANT 1574
FT /note="M -> T (in dbSNP:rs1564769834)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046416"
FT VARIANT 1575
FT /note="A -> T (in dbSNP:rs1227051)"
FT /evidence="ECO:0000269|PubMed:11090341,
FT ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:24767429"
FT /id="VAR_012175"
FT VARIANT 1586
FT /note="A -> P (in DFNB12; dbSNP:rs573737471)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027328"
FT VARIANT 1588
FT /note="R -> W (in dbSNP:rs137937502)"
FT /evidence="ECO:0000269|PubMed:22899989,
FT ECO:0000269|PubMed:24767429"
FT /id="VAR_071421"
FT VARIANT 1595
FT /note="E -> K (in DFNB12; dbSNP:rs778204574)"
FT /evidence="ECO:0000269|PubMed:12075507,
FT ECO:0000269|PubMed:24767429"
FT /id="VAR_027329"
FT VARIANT 1620
FT /note="V -> M (in dbSNP:rs41281330)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027330"
FT VARIANT 1626
FT /note="D -> A (in DFNB12; dbSNP:rs1554871816)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071422"
FT VARIANT 1671
FT /note="T -> S (in dbSNP:rs749678546)"
FT /evidence="ECO:0000269|PubMed:11138009"
FT /id="VAR_012176"
FT VARIANT 1675
FT /note="V -> I (in dbSNP:rs17712523)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:18429043,
FT ECO:0000269|PubMed:24767429"
FT /id="VAR_012177"
FT VARIANT 1711
FT /note="V -> I (in dbSNP:rs181611778)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046417"
FT VARIANT 1716
FT /note="Q -> P (in DFNB12; dbSNP:rs758382198)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046418"
FT VARIANT 1746
FT /note="R -> Q (in USH1D; mild retinal affection;
FT dbSNP:rs111033270)"
FT /evidence="ECO:0000269|PubMed:11138009"
FT /id="VAR_012178"
FT VARIANT 1788
FT /note="P -> L (in USH1D; dbSNP:rs564555435)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046419"
FT VARIANT 1804
FT /note="R -> Q (in dbSNP:rs3802711)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:24767429"
FT /id="VAR_012179"
FT VARIANT 1806
FT /note="D -> E (in dbSNP:rs74145660)"
FT /evidence="ECO:0000269|PubMed:24767429,
FT ECO:0000269|PubMed:28887846"
FT /id="VAR_071423"
FT VARIANT 1807
FT /note="V -> M (in dbSNP:rs143993990)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046420"
FT VARIANT 1846
FT /note="D -> N (in DFNB12; dbSNP:rs746323558)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027331"
FT VARIANT 1876
FT /note="S -> N (in dbSNP:rs983665281)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046421"
FT VARIANT 1887
FT /note="T -> I (in dbSNP:rs397517340)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027332"
FT VARIANT 1888
FT /note="F -> S (in DFNB12; dbSNP:rs121908352)"
FT /evidence="ECO:0000269|PubMed:15829536"
FT /id="VAR_027333"
FT VARIANT 1908
FT /note="V -> I (in dbSNP:rs368828743)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046422"
FT VARIANT 1912
FT /note="R -> W (in USH1D; dbSNP:rs397517344)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046423"
FT VARIANT 1930
FT /note="D -> N (in USH1D)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046424"
FT VARIANT 1999
FT /note="T -> S (in DFNB12; dbSNP:rs11592462)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:17234811,
FT ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429"
FT /id="VAR_012180"
FT VARIANT 2017
FT /note="G -> S (in USH1D; most likely affects splicing;
FT dbSNP:rs183431253)"
FT /evidence="ECO:0000269|PubMed:16679490,
FT ECO:0000269|PubMed:18429043"
FT /id="VAR_027334"
FT VARIANT 2029
FT /note="R -> W (in DFNB12; dbSNP:rs750880909)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046425"
FT VARIANT 2044
FT /note="E -> K (in dbSNP:rs10466026)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:24767429"
FT /id="VAR_012181"
FT VARIANT 2045
FT /note="D -> N (in DFNB12; dbSNP:rs121908348)"
FT /evidence="ECO:0000269|PubMed:11090341"
FT /id="VAR_012182"
FT VARIANT 2066
FT /note="R -> Q (in dbSNP:rs201887949)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027335"
FT VARIANT 2115
FT /note="R -> H (in PITA5; unknown pathological significance;
FT dbSNP:rs1270566026)"
FT /evidence="ECO:0000269|PubMed:28413019"
FT /id="VAR_080382"
FT VARIANT 2125
FT /note="I -> M (in dbSNP:rs16929354)"
FT /id="VAR_046426"
FT VARIANT 2130
FT /note="A -> V"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071424"
FT VARIANT 2148
FT /note="D -> N (in DFNB12; dbSNP:rs111033271)"
FT /evidence="ECO:0000269|PubMed:12522556"
FT /id="VAR_027336"
FT VARIANT 2171
FT /note="R -> C (in dbSNP:rs781698111)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046427"
FT VARIANT 2202
FT /note="D -> N (in DFNB12; dbSNP:rs121908349)"
FT /evidence="ECO:0000269|PubMed:11090341"
FT /id="VAR_012183"
FT VARIANT 2227
FT /note="Q -> P (in dbSNP:rs778453484)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046428"
FT VARIANT 2283
FT /note="V -> I (in dbSNP:rs41281334)"
FT /evidence="ECO:0000269|PubMed:12075507,
FT ECO:0000269|PubMed:12522556, ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429"
FT /id="VAR_027337"
FT VARIANT 2287
FT /note="N -> K (in DFNB12)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071425"
FT VARIANT 2358
FT /note="R -> Q (in dbSNP:rs4747194)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556,
FT ECO:0000269|PubMed:24767429"
FT /id="VAR_012184"
FT VARIANT 2376
FT /note="D -> N (in dbSNP:rs9663920)"
FT /id="VAR_027338"
FT VARIANT 2376
FT /note="D -> V (in USH1D)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046429"
FT VARIANT 2380
FT /note="P -> L (in dbSNP:rs4747195)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556,
FT ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429"
FT /id="VAR_012185"
FT VARIANT 2438
FT /note="E -> K (in DFNB12; dbSNP:rs1264310782)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071426"
FT VARIANT 2465
FT /note="R -> W (in DFNB12; dbSNP:rs760879110)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027339"
FT VARIANT 2473
FT /note="L -> P (in dbSNP:rs1589429497)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046430"
FT VARIANT 2489
FT /note="R -> H (in dbSNP:rs141986620)"
FT /evidence="ECO:0000269|PubMed:17850630"
FT /id="VAR_046431"
FT VARIANT 2517
FT /note="S -> G (in USH1D; dbSNP:rs759093040)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027340"
FT VARIANT 2530
FT /note="T -> I (in USH1D; dbSNP:rs781406146)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046432"
FT VARIANT 2531
FT /note="M -> V (in dbSNP:rs569138025)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071427"
FT VARIANT 2588
FT /note="E -> Q (in dbSNP:rs41281338)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:18429043"
FT /id="VAR_012186"
FT VARIANT 2608
FT /note="R -> H (in DFNB12; dbSNP:rs202052174)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027341"
FT VARIANT 2669
FT /note="I -> V"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046433"
FT VARIANT 2744
FT /note="G -> S (in USH1D; atypical; dbSNP:rs376189742)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027342"
FT VARIANT 2771
FT /note="G -> S (in USH1D; dbSNP:rs201076440)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046434"
FT VARIANT 2801
FT /note="F -> V (in dbSNP:rs3802707)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989, ECO:0000269|PubMed:24767429"
FT /id="VAR_046435"
FT VARIANT 2833
FT /note="R -> G (in USH1D; atypical; dbSNP:rs760130862)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027343"
FT VARIANT 2853
FT /note="A -> Q (requires 2 nucleotide substitutions)"
FT /id="VAR_046436"
FT VARIANT 2912
FT /note="G -> S (in dbSNP:rs1381655860)"
FT /evidence="ECO:0000269|PubMed:22899989"
FT /id="VAR_071428"
FT VARIANT 2933
FT /note="V -> E"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027344"
FT VARIANT 2950
FT /note="I -> N (in DFNB12; dbSNP:rs752937051)"
FT /evidence="ECO:0000269|PubMed:11090341"
FT /id="VAR_012187"
FT VARIANT 2954
FT /note="D -> N (in dbSNP:rs756793995)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027345"
FT VARIANT 2956
FT /note="R -> C (in DFNB12; dbSNP:rs751367894)"
FT /evidence="ECO:0000269|PubMed:11090341"
FT /id="VAR_012188"
FT VARIANT 2962
FT /note="N -> S"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027346"
FT VARIANT 2968
FT /note="V -> A (in USH1D; dbSNP:rs765847991)"
FT /evidence="ECO:0000269|PubMed:18429043"
FT /id="VAR_046437"
FT VARIANT 3059
FT /note="P -> T (in DFNB12; dbSNP:rs780514498)"
FT /evidence="ECO:0000269|PubMed:11090341"
FT /id="VAR_012189"
FT VARIANT 3062
FT /note="M -> T (in dbSNP:rs770888523)"
FT /evidence="ECO:0000269|PubMed:24916380"
FT /id="VAR_072662"
FT VARIANT 3080
FT /note="A -> T (in dbSNP:rs369395479)"
FT /evidence="ECO:0000269|PubMed:24767429"
FT /id="VAR_071429"
FT VARIANT 3125
FT /note="F -> L (in dbSNP:rs45583140)"
FT /evidence="ECO:0000269|PubMed:11138009,
FT ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429"
FT /id="VAR_012190"
FT VARIANT 3138
FT /note="R -> W (in PITA5; unknown pathological significance;
FT dbSNP:rs1052484950)"
FT /evidence="ECO:0000269|PubMed:28413019"
FT /id="VAR_080383"
FT VARIANT 3175
FT /note="R -> C (in dbSNP:rs770796134)"
FT /evidence="ECO:0000269|PubMed:17850630,
FT ECO:0000269|PubMed:22899989"
FT /id="VAR_046438"
FT VARIANT 3175
FT /note="R -> H (in USH1D; dbSNP:rs140884994)"
FT /evidence="ECO:0000269|PubMed:12075507"
FT /id="VAR_027347"
FT VARIANT 3189
FT /note="R -> W (in USH1D and USH1DF; dbSNP:rs121908353)"
FT /evidence="ECO:0000269|PubMed:15537665,
FT ECO:0000269|PubMed:15660226"
FT /id="VAR_024033"
FT VARIANT 3245
FT /note="S -> F (in USH1D)"
FT /evidence="ECO:0000269|PubMed:15660226"
FT /id="VAR_024034"
FT VARIANT 3296
FT /note="D -> N (in PITA5; unknown pathological significance;
FT dbSNP:rs372388344)"
FT /evidence="ECO:0000269|PubMed:28413019"
FT /id="VAR_080384"
FT CONFLICT 985
FT /note="V -> L (in Ref. 7; AAG27034)"
FT /evidence="ECO:0000305"
FT CONFLICT 1403
FT /note="K -> V (in Ref. 7; AAG27034)"
FT /evidence="ECO:0000305"
FT CONFLICT 2173..2236
FT /note="EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVGIVAKDDTDRLV
FT PNQEDAFAVNIN -> ASWEGQSHVTQAYEEAVGPPQPQVPDSTGDRHPLWGLGGFGQE
FT HPWEGQILGGSSQAEPGLVWS (in Ref. 8; BAB61902)"
FT /evidence="ECO:0000305"
FT STRAND 560..564
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 566..571
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 577..583
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 597..605
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 607..609
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 610..615
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 618..623
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 629..631
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 633..635
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 636..644
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 652..662
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 670..672
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 674..683
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 689..692
FT /evidence="ECO:0007829|PDB:5TFM"
FT TURN 702..704
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 706..708
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 710..715
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 719..721
FT /evidence="ECO:0007829|PDB:5TFM"
FT TURN 723..725
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 727..732
FT /evidence="ECO:0007829|PDB:5TFM"
FT TURN 736..738
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 741..749
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 754..756
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 759..769
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 777..780
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 782..787
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 796..799
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 808..811
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 813..819
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 824..826
FT /evidence="ECO:0007829|PDB:5TFM"
FT TURN 828..830
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 832..835
FT /evidence="ECO:0007829|PDB:5TFM"
FT HELIX 847..851
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 854..862
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 874..880
FT /evidence="ECO:0007829|PDB:5TFM"
FT STRAND 1312..1323
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1331..1334
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1347..1350
FT /evidence="ECO:0007829|PDB:5WJ8"
FT HELIX 1356..1361
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1362..1364
FT /evidence="ECO:0007829|PDB:5WJ8"
FT TURN 1366..1368
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1370..1373
FT /evidence="ECO:0007829|PDB:5WJ8"
FT TURN 1379..1381
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1383..1392
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1394..1397
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1400..1409
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1425..1429
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1437..1444
FT /evidence="ECO:0007829|PDB:5WJ8"
FT HELIX 1449..1452
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1454..1460
FT /evidence="ECO:0007829|PDB:5WJ8"
FT HELIX 1463..1465
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1467..1472
FT /evidence="ECO:0007829|PDB:5WJ8"
FT TURN 1473..1475
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1476..1481
FT /evidence="ECO:0007829|PDB:5WJ8"
FT TURN 1487..1489
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1492..1501
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1503..1505
FT /evidence="ECO:0007829|PDB:5WJ8"
FT STRAND 1508..1518
FT /evidence="ECO:0007829|PDB:5WJ8"
FT HELIX 3187..3198
FT /evidence="ECO:0007829|PDB:2KBR"
FT HELIX 3214..3226
FT /evidence="ECO:0007829|PDB:2LSR"
FT STRAND 3351..3353
FT /evidence="ECO:0007829|PDB:2KBS"
SQ SEQUENCE 3354 AA; 369494 MW; 1B68045A7FFA97BA CRC64;
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM
DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI
QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI
DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP
YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD
RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL
AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD
YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL
TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG
EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI
VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE
VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR
INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD
APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML
DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL
EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE
YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT
DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK
RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR
ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED
INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE
STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA
AILENLALGT EIVRVQAYSI DNLNQITYRF NAYTSTQAKA LFKIDAITGV ITVQGLVDRE
KGDFYTLTVV ADDGGPKVDS TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT
VKAWDPDAGS NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS
DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV RATDRDIGIN
SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY HLVATVEDEG TPTLSATTHV
YVTIVDENDN APMFQQPHYE VLLDEGPDTL NTSLITIQAL DLDEGPNGTV TYAIVAGNIV
NTFRIDRHMG VITAAKELDY EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN
VPTFPRDYEG PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV
LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV LLNLPMNITI
SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF INATTGIVTV NRPLDRERIP
EYKLTISVKD NPENPRIARR DYDLLLIFLS DENDNHPLFT KSTYQAEVME NSPAGTPLTV
LNGPILALDA DQDIYAVVTY QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL
LLAEDIGLLN STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL
NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG TVPLSGTAIV
TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID HDLNPKLEYH IVGIVAKDDT
DRLVPNQEDA FAVNINTGSV MVKSPMNREL VATYEVTLSV IDNASDLPER SVSVPNAKLT
VNVLDVNDNT PQFKPFGITY YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP
PGYVQLEDSS AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP
IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI NPTTGDIYVL
SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL DVNDCRPQFS KPQFSTSVYE
NEPAGTSVIT MMATDQDEGP NGELTYSLEG PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT
VVATDGGEPP LWGTTMLLVE VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK
DEGLNGAVRY SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV
PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV TGAVDADEGP
NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS FIVKASSNRS WTPPRGPSPT
LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE YTAGVATDAK VGSELIQVLA LDADIGNNSL
VFYSILAIHY FRALANDSED VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH
NDTAIIGIYI LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG
RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV QPAISVRLPD
DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA IVAGSAGNRG FIDIMDMPNT
NKYSFDGANP VWLDPFCRNL ELAAQAEHED DLPENLSEIA DLWNSPTRTH GTFGREPAAV
KPDDDRYLRA AIQEYDNIAK LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC
HSSISELIQT ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL
PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE ITEL
