USH2A_HUMAN
ID USH2A_HUMAN Reviewed; 5202 AA.
AC O75445; Q5VVM9; Q6S362; Q9NS27;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 04-APR-2006, sequence version 3.
DT 03-AUG-2022, entry version 184.
DE RecName: Full=Usherin;
DE AltName: Full=Usher syndrome type IIa protein;
DE AltName: Full=Usher syndrome type-2A protein;
DE Flags: Precursor;
GN Name=USH2A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN USH2A, TISSUE
RP SPECIFICITY, AND VARIANTS SER-479 AND LYS-1486.
RX PubMed=9624053; DOI=10.1126/science.280.5370.1753;
RA Eudy J.D., Weston M.D., Yao S.F., Hoover D.M., Rehm H.L., Ahmad I.,
RA Ma-Edmonds M., Yan D., Cheng J.J., Beisel K.W., Ayuso C., Cremers C.,
RA Davenport S., Moller C., Talmadge C.B., Tamayo M., Swaroop A., Morton C.C.,
RA Kimberling W.J., Sumegi J.;
RT "Mutation of a gene encoding a protein with extracellular matrix motifs in
RT Usher syndrome type IIa.";
RL Science 280:1753-1757(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN USH2A, VARIANT LYS-1486,
RP AND VARIANTS USH2A TYR-319; HIS-346 AND PHE-419.
RX PubMed=10729113; DOI=10.1086/302855;
RA Weston M.D., Eudy J.D., Fugita S., Yao S.-F., Usami S., Cremers C.,
RA Greenberg J., Ramesar R., Martini A., Moller C., Smith R.J., Sumegi J.,
RA Kimberling W.J.;
RT "Genomic structure and identification of novel mutations in usherin, the
RT gene responsible for Usher syndrome type IIa.";
RL Am. J. Hum. Genet. 66:1199-1210(2000).
RN [3]
RP ERRATUM OF PUBMED:10729113.
RA Weston M.D., Eudy J.D., Fugita S., Yao S.-F., Usami S., Cremers C.,
RA Greenberg J., Ramesar R., Martini A., Moller C., Smith R.J., Sumegi J.,
RA Kimberling W.J.;
RL Am. J. Hum. Genet. 66:2020-2020(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANTS
RP USH2A CYS-4115 AND MET-4425.
RX PubMed=15015129; DOI=10.1086/383096;
RA Van Wijk E., Pennings R.J.E., Te Brinke H., Claassen A., Yntema H.G.,
RA Hoefsloot L.H., Cremers F.P.M., Cremers C.W.R.J., Kremer H.;
RT "Identification of 51 novel exons of the Usher syndrome type 2A (USH2A)
RT gene that encode multiple conserved functional domains and that are mutated
RT in patients with Usher syndrome type II.";
RL Am. J. Hum. Genet. 74:738-744(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=11788194; DOI=10.1016/s0378-5955(01)00344-6;
RA Bhattacharya G., Miller C., Kimberling W.J., Jablonski M.M., Cosgrove D.;
RT "Localization and expression of usherin: a novel basement membrane protein
RT defective in people with Usher's syndrome type IIa.";
RL Hear. Res. 163:1-11(2002).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=12433396; DOI=10.1016/s0378-5955(02)00635-4;
RA Pearsall N., Bhattacharya G., Wisecarver J., Adams J., Cosgrove D.,
RA Kimberling W.;
RT "Usherin expression is highly conserved in mouse and human tissues.";
RL Hear. Res. 174:55-63(2002).
RN [8]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH COLLAGEN.
RX PubMed=14676276; DOI=10.1242/jcs.00850;
RA Bhattacharya G., Kalluri R., Orten D.J., Kimberling W.J., Cosgrove D.;
RT "A domain-specific usherin/collagen IV interaction may be required for
RT stable integration into the basement membrane superstructure.";
RL J. Cell Sci. 117:233-242(2004).
RN [9]
RP INTERACTION WITH FIBRONECTIN.
RX PubMed=16114888; DOI=10.1021/bi050245u;
RA Bhattacharya G., Cosgrove D.;
RT "Evidence for functional importance of usherin/fibronectin interactions in
RT retinal basement membranes.";
RL Biochemistry 44:11518-11524(2005).
RN [10]
RP ALTERNATIVE SPLICING (ISOFORM 3).
RX PubMed=16301217; DOI=10.1093/hmg/ddi416;
RA Adato A., Lefevre G., Delprat B., Michel V., Michalski N., Chardenoux S.,
RA Weil D., El-Amraoui A., Petit C.;
RT "Usherin, the defective protein in Usher syndrome type IIA, is likely to be
RT a component of interstereocilia ankle links in the inner ear sensory
RT cells.";
RL Hum. Mol. Genet. 14:3921-3932(2005).
RN [11]
RP INTERACTION WITH USH1C.
RX PubMed=16301216; DOI=10.1093/hmg/ddi417;
RA Reiners J., van Wijk E., Maerker T., Zimmermann U., Juergens K.,
RA te Brinke H., Overlack N., Roepman R., Knipper M., Kremer H., Wolfrum U.;
RT "Scaffold protein harmonin (USH1C) provides molecular links between Usher
RT syndrome type 1 and type 2.";
RL Hum. Mol. Genet. 14:3933-3943(2005).
RN [12]
RP INTERACTION WITH WHRN.
RX PubMed=16434480; DOI=10.1093/hmg/ddi490;
RA van Wijk E., van der Zwaag B., Peters T., Zimmermann U., Te Brinke H.,
RA Kersten F.F.J., Maerker T., Aller E., Hoefsloot L.H., Cremers C.W.R.J.,
RA Cremers F.P.M., Wolfrum U., Knipper M., Roepman R., Kremer H.;
RT "The DFNB31 gene product whirlin connects to the Usher protein network in
RT the cochlea and retina by direct association with USH2A and VLGR1.";
RL Hum. Mol. Genet. 15:751-765(2006).
RN [13]
RP REVIEW ON VARIANTS.
RX PubMed=12786748; DOI=10.1034/j.1399-0004.2003.00109.x;
RA Ahmed Z.M., Riazuddin S., Riazuddin S., Wilcox E.R.;
RT "The molecular genetics of Usher syndrome.";
RL Clin. Genet. 63:431-444(2003).
RN [14]
RP INTERACTION WITH NINL.
RX PubMed=18826961; DOI=10.1093/hmg/ddn312;
RA van Wijk E., Kersten F.F.J., Kartono A., Mans D.A., Brandwijk K.,
RA Letteboer S.J.F., Peters T.A., Maerker T., Yan X., Cremers C.W.R.J.,
RA Cremers F.P.M., Wolfrum U., Roepman R., Kremer H.;
RT "Usher syndrome and Leber congenital amaurosis are molecularly linked via a
RT novel isoform of the centrosomal ninein-like protein.";
RL Hum. Mol. Genet. 18:51-64(2009).
RN [15]
RP INTERACTION WITH PDZD7, AND VARIANT USH2A ILE-4439.
RX PubMed=20440071; DOI=10.1172/jci39715;
RA Ebermann I., Phillips J.B., Liebau M.C., Koenekoop R.K., Schermer B.,
RA Lopez I., Schafer E., Roux A.F., Dafinger C., Bernd A., Zrenner E.,
RA Claustres M., Blanco B., Nurnberg G., Nurnberg P., Ruland R.,
RA Westerfield M., Benzing T., Bolz H.J.;
RT "PDZD7 is a modifier of retinal disease and a contributor to digenic Usher
RT syndrome.";
RL J. Clin. Invest. 120:1812-1823(2010).
RN [16]
RP INVOLVEMENT IN RP39, AND VARIANT RP39 PHE-759.
RX PubMed=10775529; DOI=10.1086/302926;
RA Rivolta C., Sweklo E.A., Berson E.L., Dryja T.P.;
RT "Missense mutation in the USH2A gene: association with recessive retinitis
RT pigmentosa without hearing loss.";
RL Am. J. Hum. Genet. 66:1975-1978(2000).
RN [17]
RP VARIANTS USH2A TYR-163; MET-230 AND ARG-536, AND VARIANT ARG-713.
RX PubMed=10909849; DOI=10.1038/sj.ejhg.5200491;
RA Dreyer B., Tranebjaerg L., Rosenberg T., Weston M.D., Kimberling W.J.,
RA Nilssen O.;
RT "Identification of novel USH2A mutations: implications for the structure of
RT USH2A protein.";
RL Eur. J. Hum. Genet. 8:500-506(2000).
RN [18]
RP VARIANTS USH2A TRP-334 AND MET-1515, AND VARIANTS ASP-478; VAL-644 AND
RP LYS-1486.
RX PubMed=10738000;
RX DOI=10.1002/(sici)1098-1004(200004)15:4<388::aid-humu27>3.0.co;2-n;
RA Adato A., Weston M.D., Berry A., Kimberling W.J., Bonne-Tamir A.;
RT "Three novel mutations and twelve polymorphisms identified in the USH2A
RT gene in Israeli USH2 families.";
RL Hum. Mutat. 15:388-388(2000).
RN [19]
RP VARIANTS USH2A GLU-218; MET-230 AND VAL-555.
RX PubMed=11311042; DOI=10.1006/exer.2000.0978;
RA Leroy B.P., Aragon-Martin J.A., Weston M.D., Bessant D.A.R., Willis C.,
RA Webster A.R., Bird A.C., Kimberling W.J., Payne A.M., Bhattacharya S.S.;
RT "Spectrum of mutations in USH2A in British patients with Usher syndrome
RT type II.";
RL Exp. Eye Res. 72:503-509(2001).
RN [20]
RP VARIANT RP39 PHE-759.
RX PubMed=12427073; DOI=10.1001/archopht.120.11.1566;
RA Rivolta C., Berson E.L., Dryja T.P.;
RT "Paternal uniparental heterodisomy with partial isodisomy of chromosome 1
RT in a patient with retinitis pigmentosa without hearing loss and a missense
RT mutation in the Usher syndrome type II gene USH2A.";
RL Arch. Ophthalmol. 120:1566-1571(2002).
RN [21]
RP VARIANT ARG-713, AND VARIANT RP39 PHE-759.
RX PubMed=12112664; DOI=10.1002/humu.9042;
RA Najera C., Beneyto M., Blanca J., Aller E., Fontcuberta A., Millan J.M.,
RA Ayuso C.;
RT "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients
RT with Usher syndrome types I and II, respectively.";
RL Hum. Mutat. 20:76-77(2002).
RN [22]
RP VARIANTS USH2A PRO-610 AND ARG-761.
RX PubMed=12525556; DOI=10.1136/jmg.40.1.e8;
RA Bernal S., Ayuso C., Antinolo G., Gimenez A., Borrego S., Trujillo M.J.,
RA Marcos I., Calaf M., Del Rio E., Baiget M.;
RT "Mutations in USH2A in Spanish patients with autosomal recessive retinitis
RT pigmentosa: high prevalence and phenotypic variation.";
RL J. Med. Genet. 40:E8-E8(2003).
RN [23]
RP VARIANTS USH2A TRP-334; HIS-346 AND THR-357, AND VARIANTS SER-479 AND
RP VAL-644.
RX PubMed=15025721; DOI=10.1046/j.1399-0004.2004.00216.x;
RA Ouyang X.M., Yan D., Hejtmancik J.F., Jacobson S.G., Li A.R., Du L.L.,
RA Angeli S., Kaiser M., Balkany T., Liu X.Z.;
RT "Mutational spectrum in Usher syndrome type II.";
RL Clin. Genet. 65:288-293(2004).
RN [24]
RP ERRATUM OF PUBMED:15025721.
RA Ouyang X.M., Yan D., Hejtmancik J.F., Jacobson S.G., Li A.R., Du L.L.,
RA Angeli S., Kaiser M., Balkany T., Liu X.Z.;
RL Clin. Genet. 65:433-433(2004).
RN [25]
RP VARIANT USH2A SER-303, AND VARIANT RP PHE-759.
RX PubMed=14970843; DOI=10.1038/sj.ejhg.5201138;
RA Aller E., Najera C., Millan J.M., Oltra J.S., Perez-Garrigues H.,
RA Vilela C., Navea A., Beneyto M.;
RT "Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with
RT visual and/or auditory impairments.";
RL Eur. J. Hum. Genet. 12:407-410(2004).
RN [26]
RP VARIANTS USH2A ILE-307; ILE-391; PHE-419; CYS-464; VAL-516 THR-517;
RP SER-575; ASN-587 DEL AND LEU-1059, VARIANTS RP39/USH2A ASP-478 AND PHE-759,
RP VARIANTS RP39 LEU-739; ASN-911 AND ARG-1470, AND VARIANTS THR-125; MET-230;
RP ARG-268; PHE-365; VAL-644; ARG-713; VAL-1047 AND LYS-1486.
RX PubMed=15325563; DOI=10.1016/j.exer.2004.03.005;
RA Seyedahmadi B.J., Rivolta C., Keene J.A., Berson E.L., Dryja T.P.;
RT "Comprehensive screening of the USH2A gene in Usher syndrome type II and
RT non-syndromic recessive retinitis pigmentosa.";
RL Exp. Eye Res. 79:167-173(2004).
RN [27]
RP VARIANTS USH2A HIS-346; PHE-419 AND ARG-536, AND VARIANT ARG-713.
RX PubMed=15241801; DOI=10.1002/humu.9259;
RA Pennings R.J.E., Te Brinke H., Weston M.D., Claassen A., Orten D.J.,
RA Weekamp H., Van Aarem A., Huygen P.L.M., Deutman A.F., Hoefsloot L.H.,
RA Cremers F.P.M., Cremers C.W.R.J., Kimberling W.J., Kremer H.;
RT "USH2A mutation analysis in 70 Dutch families with Usher syndrome type
RT II.";
RL Hum. Mutat. 24:185-185(2004).
RN [28]
RP VARIANT RP39 PHE-759, AND VARIANTS THR-125; ASP-478; VAL-644; GLU-703;
RP TYR-841 AND LYS-1486.
RX PubMed=16098008; DOI=10.1111/j.1399-0004.2005.00481.x;
RA Bernal S., Meda C., Solans T., Ayuso C., Garcia-Sandoval B., Valverde D.,
RA Del Rio E., Baiget M.;
RT "Clinical and genetic studies in Spanish patients with Usher syndrome type
RT II: description of new mutations and evidence for a lack of genotype-
RT phenotype correlation.";
RL Clin. Genet. 68:204-214(2005).
RN [29]
RP VARIANTS USH2A ASP-2249; HIS-2354; ARG-3251; ARG-3267; TYR-3472 INS;
RP MET-3571; MET-4337 AND LEU-4818, AND VARIANTS ARG-713; PHE-1572; THR-1665;
RP THR-2106; THR-2169; ALA-2238; GLN-2875; PHE-2886; SER-3099; ASN-3144;
RP ALA-3411 AND VAL-3868.
RX PubMed=17085681; DOI=10.1136/jmg.2006.041764;
RA Aller E., Jaijo T., Beneyto M., Najera C., Oltra S., Ayuso C., Baiget M.,
RA Carballo M., Antinolo G., Valverde D., Moreno F., Vilela C., Collado D.,
RA Perez-Garrigues H., Navea A., Millan J.M.;
RT "Identification of 14 novel mutations in the long isoform of USH2A in
RT Spanish patients with Usher syndrome type II.";
RL J. Med. Genet. 43:E55-E55(2006).
RN [30]
RP VARIANT RP39 GLY-4674, AND VARIANTS THR-125; ASP-478; VAL-644; ARG-713;
RP LYS-1486; THR-1665; THR-2106; THR-2169; GLN-2875; SER-3099; ASN-3144 AND
RP MET-3335.
RX PubMed=17296898; DOI=10.1001/archopht.125.2.219;
RA Kaiserman N., Obolensky A., Banin E., Sharon D.;
RT "Novel USH2A mutations in Israeli patients with retinitis pigmentosa and
RT Usher syndrome type 2.";
RL Arch. Ophthalmol. 125:219-224(2007).
RN [31]
RP VARIANTS USH2A GLU-218; PHE-280; LYS-284; TRP-334; GLN-334; HIS-346;
RP ILE-352; PHE-759; GLU-1833; SER-2795; ARG-3282; MET-3571; GLU-3895;
RP MET-3976; CYS-4115 AND MET-4425, AND VARIANT PHE-1572.
RX PubMed=17405132; DOI=10.1002/humu.20513;
RA Baux D., Larrieu L., Blanchet C., Hamel C., Ben Salah S., Vielle A.,
RA Gilbert-Dussardier B., Holder M., Calvas P., Philip N., Edery P.,
RA Bonneau D., Claustres M., Malcolm S., Roux A.-F.;
RT "Molecular and in silico analyses of the full-length isoform of usherin
RT identify new pathogenic alleles in Usher type II patients.";
RL Hum. Mutat. 28:781-789(2007).
RN [32]
RP VARIANTS USH2A TRP-334 AND VAL-1840.
RX PubMed=18452394; DOI=10.1089/gte.2007.0107;
RA Auslender N., Bandah D., Rizel L., Behar D.M., Shohat M., Banin E.,
RA Allon-Shalev S., Sharony R., Sharon D., Ben-Yosef T.;
RT "Four USH2A founder mutations underlie the majority of Usher syndrome type
RT 2 cases among non-Ashkenazi Jews.";
RL Genet. Test. 12:289-294(2008).
RN [33]
RP VARIANTS USH2A TYR-163; ARG-268; CYS-303; TRP-334; HIS-346; ILE-352;
RP ARG-536; PHE-759; LEU-1212; ASP-2265-ASP-TYR-2266 DELINS ASP; GLY-3124;
RP THR-3504; ARG-3521; ILE-4054; ARG-4232; ILE-4439; CYS-4487; HIS-4592 AND
RP ARG-4795, AND VARIANTS THR-125; MET-230; ASP-478; SER-595; VAL-644;
RP ARG-713; PRO-1349; LYS-1486; PHE-1572; THR-1665; CYS-1757; ASN-2080;
RP ASN-2086; THR-2106; THR-2169; ALA-2238; HIS-2292; ALA-2562; GLN-2875;
RP PHE-2886; LYS-3088; SER-3099; ALA-3115; ASN-3144; ASP-3199; ALA-3411;
RP LEU-3590; ILE-3835; VAL-3868; THR-3893; CYS-4115; LEU-4433; VAL-4624 AND
RP TRP-5031.
RX PubMed=18273898; DOI=10.1002/humu.9524;
RA Dreyer B., Brox V., Tranebjaerg L., Rosenberg T., Sadeghi A.M., Moeller C.,
RA Nilssen O.;
RT "Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome
RT type II.";
RL Hum. Mutat. 29:451-451(2008).
RN [34]
RP VARIANTS USH2A PRO-180; TYR-691; SER-1369 DEL; ARG-2752; GLY-3515; MET-3571
RP AND CYS-3747, AND VARIANTS LYS-1486; THR-2106; THR-2169; GLN-2875;
RP PHE-2886; ALA-3115; ASP-3199; ALA-3411; ILE-3835; VAL-3868; ARG-4203;
RP HIS-4493; VAL-4611; GLU-4838; GLN-4848 AND GLU-5026.
RX PubMed=19737284; DOI=10.1111/j.1399-0004.2009.01257.x;
RA Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Mizuta K., Mineta H.,
RA Minoshima S.;
RT "Identification of 11 novel mutations in USH2A among Japanese patients with
RT Usher syndrome type 2.";
RL Clin. Genet. 76:383-391(2009).
RN [35]
RP VARIANTS USH2A TRP-334 AND VAL-555.
RX PubMed=19683999; DOI=10.1167/iovs.09-4085;
RA Jaijo T., Aller E., Garcia-Garcia G., Aparisi M.J., Bernal S.,
RA Avila-Fernandez A., Barragan I., Baiget M., Ayuso C., Antinolo G.,
RA Diaz-Llopis M., Kulm M., Beneyto M., Najera C., Millan J.M.;
RT "Microarray-based mutation analysis of 183 Spanish families with Usher
RT syndrome.";
RL Invest. Ophthalmol. Vis. Sci. 51:1311-1317(2010).
RN [36]
RP VARIANTS USH2A THR-1836; GLY-1953; ASN-2080; ARG-2116; PHE-2128; TYR-2128;
RP THR-2196; ALA-2238; PRO-2260; HIS-2292; ALA-2562; PRO-2639; SER-2786;
RP 3263-ILE--GLY-3269 DEL; LYS-3448; ILE-3462; CYS-3479; SER-3529; MET-3844;
RP LYS-3904; ARG-4174; ARG-4269; LEU-4433; 4445-GLU--SER-4449 DELINS ASP-LEU;
RP HIS-4570; GLU-4662; ARG-4692; ARG-4763; ARG-4808; ARG-4817 AND MET-4918,
RP VARIANTS RP39 SER-1978; TYR-2237; HIS-2573; LYS-2930; TYR-3358; TYR-3384;
RP PRO-3606; SER-3618; HIS-3719; LYS-4094; HIS-4192; ASN-4248; VAL-4447;
RP PRO-4840; MET-4844; HIS-5143; ILE-5145 AND GLY-5188, AND VARIANTS PHE-1572;
RP THR-1665; THR-2169; GLN-2875; SER-3099; ASN-3144; ALA-3411; VAL-3868;
RP ASP-4778; GLU-4838; GLN-4848 AND GLU-5026.
RX PubMed=20507924; DOI=10.1136/jmg.2009.075143;
RA McGee T.L., Seyedahmadi B.J., Sweeney M.O., Dryja T.P., Berson E.L.;
RT "Novel mutations in the long isoform of the USH2A gene in patients with
RT Usher syndrome type II or non-syndromic retinitis pigmentosa.";
RL J. Med. Genet. 47:499-506(2010).
RN [37]
RP VARIANT USH2A ARG-1734.
RX PubMed=20309401; DOI=10.1167/3.9.454;
RA Liu X., Tang Z., Li C., Yang K., Gan G., Zhang Z., Liu J., Jiang F.,
RA Wang Q., Liu M.;
RT "Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese
RT family.";
RL Mol. Vis. 16:454-461(2010).
RN [38]
RP VARIANT ARG-4203.
RX PubMed=21835308; DOI=10.1016/j.ajhg.2011.07.012;
RA Doi H., Yoshida K., Yasuda T., Fukuda M., Fukuda Y., Morita H., Ikeda S.,
RA Kato R., Tsurusaki Y., Miyake N., Saitsu H., Sakai H., Miyatake S.,
RA Shiina M., Nukina N., Koyano S., Tsuji S., Kuroiwa Y., Matsumoto N.;
RT "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset,
RT autosomal-recessive spinocerebellar ataxia with psychomotor retardation.";
RL Am. J. Hum. Genet. 89:320-327(2011).
RN [39]
RP VARIANT USH2A TRP-1777, AND VARIANTS VAL-4616 AND THR-4881.
RX PubMed=21593743; DOI=10.1038/jhg.2011.45;
RA Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Usami S., Mizuta K.,
RA Mineta H., Minoshima S.;
RT "Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked
RT differences in the mutation spectrum between the Japanese and other
RT populations.";
RL J. Hum. Genet. 56:484-490(2011).
RN [40]
RP VARIANT RP39 TRP-934, VARIANT USH2A CYS-2744, AND VARIANTS THR-125;
RP LYS-1486; THR-2106; THR-2169 AND ALA-3411.
RX PubMed=21686329;
RA Xu W., Dai H., Lu T., Zhang X., Dong B., Li Y.;
RT "Seven novel mutations in the long isoform of the USH2A gene in Chinese
RT families with nonsyndromic retinitis pigmentosa and Usher syndrome Type
RT II.";
RL Mol. Vis. 17:1537-1552(2011).
RN [41]
RP VARIANT ILE-453.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
RN [42]
RP VARIANTS USH2A ARG-44; MET-382; ARG-3546 AND ASP-3894, AND VARIANTS
RP SER-2377; LYS-2394; ILE-3835 AND LYS-4921.
RX PubMed=22004887; DOI=10.1186/1750-1172-6-65;
RA Garcia-Garcia G., Aparisi M.J., Jaijo T., Rodrigo R., Leon A.M.,
RA Avila-Fernandez A., Blanco-Kelly F., Bernal S., Navarro R., Diaz-Llopis M.,
RA Baiget M., Ayuso C., Millan J.M., Aller E.;
RT "Mutational screening of the USH2A gene in Spanish USH patients reveals 23
RT novel pathogenic mutations.";
RL Orphanet J. Rare Dis. 6:65-65(2011).
RN [43]
RP VARIANTS RP39 PHE-419; PHE-759; CYS-1859; HIS-2460; TYR-3358; ARG-3669;
RP CYS-4115; HIS-4192 AND MET-4425.
RX PubMed=22334370; DOI=10.1002/humu.22045;
RA Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L.,
RA Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J.,
RA Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U., Branham K.E.,
RA den Hollander A.I., Hoischen A., Hoyng C., Klevering B.J.,
RA van den Born L.I., Veltman J.A., Cremers F.P., Scheffer H.;
RT "Next-generation genetic testing for retinitis pigmentosa.";
RL Hum. Mutat. 33:963-972(2012).
RN [44]
RP VARIANTS RP39 SER-1442 AND ARG-5063.
RX PubMed=24227914;
RA Mendez-Vidal C., Gonzalez-Del Pozo M., Vela-Boza A., Santoyo-Lopez J.,
RA Lopez-Domingo F.J., Vazquez-Marouschek C., Dopazo J., Borrego S.,
RA Antinolo G.;
RT "Whole-exome sequencing identifies novel compound heterozygous mutations in
RT USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.";
RL Mol. Vis. 19:2187-2195(2013).
RN [45]
RP VARIANTS USH2A LEU-1843; SER-1861; ASN-2738 AND CYS-5143.
RX PubMed=23737954; DOI=10.1371/journal.pone.0063832;
RA Huang X.F., Xiang P., Chen J., Xing D.J., Huang N., Min Q., Gu F., Tong Y.,
RA Pang C.P., Qu J., Jin Z.B.;
RT "Targeted exome sequencing identified novel USH2A mutations in Usher
RT syndrome families.";
RL PLoS ONE 8:E63832-E63832(2013).
RN [46]
RP VARIANT LEU-1684.
RX PubMed=25388789; DOI=10.1186/s12967-014-0311-1;
RA Wei Q., Zhu H., Qian X., Chen Z., Yao J., Lu Y., Cao X., Xing G.;
RT "Targeted genomic capture and massively parallel sequencing to identify
RT novel variants causing Chinese hereditary hearing loss.";
RL J. Transl. Med. 12:311-311(2014).
RN [47]
RP VARIANT USH2A PHE-4386.
RX PubMed=26377068; DOI=10.1186/s12881-015-0223-9;
RA Shu H.R., Bi H., Pan Y.C., Xu H.Y., Song J.X., Hu J.;
RT "Targeted exome sequencing reveals novel USH2A mutations in Chinese
RT patients with simplex Usher syndrome.";
RL BMC Med. Genet. 16:83-83(2015).
RN [48]
RP VARIANTS THR-2811 AND ALA-3504.
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: Involved in hearing and vision as member of the USH2 complex.
CC In the inner ear, required for the maintenance of the hair bundle ankle
CC formation, which connects growing stereocilia in developing cochlear
CC hair cells. In retina photoreceptors, the USH2 complex is required for
CC the maintenance of periciliary membrane complex that seems to play a
CC role in regulating intracellular protein transport.
CC {ECO:0000250|UniProtKB:Q2QI47}.
CC -!- SUBUNIT: Interacts with collagen IV and fibronectin via its laminin
CC EGF-like domains. Interaction with collagen may be required for stable
CC integration into the basement membrane (PubMed:14676276,
CC PubMed:16114888). Interacts with NINL (PubMed:18826961). Interacts with
CC USH1C (PubMed:16301216). Component of USH2 complex, composed of ADGRV1,
CC PDZD7, USH2A and WHRN. Interacts with ADGRV1/MASS1 (via N-terminal PDZ
CC domain). Interacts (via the cytoplasmic region) with WHRN
CC (PubMed:16434480). Interacts (via the cytoplasmic region) with PDZD7
CC (PubMed:20440071). Interacts (via the cytoplasmic region) with VEZT and
CC MYO7A (via MyTH4-FERM domains); the interaction associates VEZT with
CC the USH2 complex at the stereocilia base (By similarity).
CC {ECO:0000250|UniProtKB:Q2QI47, ECO:0000269|PubMed:14676276,
CC ECO:0000269|PubMed:16114888, ECO:0000269|PubMed:16301216,
CC ECO:0000269|PubMed:16434480, ECO:0000269|PubMed:18826961,
CC ECO:0000269|PubMed:20440071}.
CC -!- INTERACTION:
CC O75445; Q9H5P4: PDZD7; NbExp=2; IntAct=EBI-9996372, EBI-20859318;
CC O75445-1; Q9Y6N9-4: USH1C; NbExp=3; IntAct=EBI-11621644, EBI-11523636;
CC O75445-1; Q9ES64-3: Ush1c; Xeno; NbExp=2; IntAct=EBI-11621644, EBI-7418919;
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium membrane
CC {ECO:0000269|PubMed:14676276}; Single-pass type I membrane protein
CC {ECO:0000269|PubMed:14676276}. Note=Component of the interstereocilia
CC ankle links in the inner ear sensory cells. In photoreceptors,
CC localizes at a plasma membrane microdomain in the apical inner segment
CC that surrounds the connecting cilia called periciliary membrane
CC complex. {ECO:0000250|UniProtKB:Q2QI47}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=b;
CC IsoId=O75445-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75445-2; Sequence=VSP_017771, VSP_017772;
CC Name=3;
CC IsoId=O75445-3; Sequence=VSP_017773;
CC -!- TISSUE SPECIFICITY: Present in the basement membrane of many, but not
CC all tissues. Expressed in retina, cochlea, small and large intestine,
CC pancreas, bladder, prostate, esophagus, trachea, thymus, salivary
CC glands, placenta, ovary, fallopian tube, uterus and testis. Absent in
CC many other tissues such as heart, lung, liver, kidney and brain. In the
CC retina, it is present in the basement membranes in the Bruch's layer
CC choroid capillary basement membranes, where it localizes just beneath
CC the retinal pigment epithelial cells (at protein level). Weakly
CC expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and
CC at very low level in brain, CNS, intestine, skeleton, tongue, kidney
CC and lung. Isoform 2 is not expressed in stomach and liver. In adult
CC tissues, isoform 2 is expressed in neural retina and testis, and at low
CC level in brain, heart, kidney and liver. Isoform 1 displays a similar
CC pattern of expression but is expressed at very low level in fetal
CC cochlea. {ECO:0000269|PubMed:11788194, ECO:0000269|PubMed:12433396,
CC ECO:0000269|PubMed:15015129, ECO:0000269|PubMed:9624053}.
CC -!- DOMAIN: The PDZ-binding motif probably mediates the association with
CC some of the PDZ domains of USH1C and WHRN.
CC {ECO:0000250|UniProtKB:Q2QI47}.
CC -!- DISEASE: Usher syndrome 2A (USH2A) [MIM:276901]: 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 USH2 is characterized by congenital mild hearing impairment with normal
CC vestibular responses. {ECO:0000269|PubMed:10729113,
CC ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:10909849,
CC ECO:0000269|PubMed:11311042, ECO:0000269|PubMed:12112664,
CC ECO:0000269|PubMed:12525556, ECO:0000269|PubMed:14970843,
CC ECO:0000269|PubMed:15015129, ECO:0000269|PubMed:15025721,
CC ECO:0000269|PubMed:15241801, ECO:0000269|PubMed:15325563,
CC ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17405132,
CC ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:18452394,
CC ECO:0000269|PubMed:19683999, ECO:0000269|PubMed:19737284,
CC ECO:0000269|PubMed:20309401, ECO:0000269|PubMed:20440071,
CC ECO:0000269|PubMed:20507924, ECO:0000269|PubMed:21593743,
CC ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:22004887,
CC ECO:0000269|PubMed:23737954, ECO:0000269|PubMed:26377068,
CC ECO:0000269|PubMed:9624053}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Retinitis pigmentosa 39 (RP39) [MIM:613809]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:10775529,
CC ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:12427073,
CC ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008,
CC ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:20507924,
CC ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:22334370,
CC ECO:0000269|PubMed:24227914}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=Defects in USH2A has been found in a patient with a form
CC of non-syndromic sensorineural hearing loss.
CC {ECO:0000269|PubMed:25388789}.
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DR EMBL; AF055580; AAC23748.2; -; mRNA.
DR EMBL; AF091889; AAF75819.1; -; Genomic_DNA.
DR EMBL; AF091873; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091875; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091876; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091874; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091877; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091879; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091881; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091883; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091888; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091887; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091886; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091885; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091884; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091882; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091880; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AF091878; AAF75819.1; JOINED; Genomic_DNA.
DR EMBL; AY481573; AAS47698.1; -; mRNA.
DR EMBL; AC092799; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093581; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC119429; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC138024; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139259; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL358452; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL358858; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445650; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513305; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS1516.1; -. [O75445-2]
DR CCDS; CCDS31025.1; -. [O75445-1]
DR RefSeq; NP_009054.5; NM_007123.5. [O75445-2]
DR RefSeq; NP_996816.2; NM_206933.2. [O75445-1]
DR SMR; O75445; -.
DR BioGRID; 113242; 3.
DR ComplexPortal; CPX-2821; USH2 complex.
DR CORUM; O75445; -.
DR IntAct; O75445; 6.
DR STRING; 9606.ENSP00000305941; -.
DR GlyGen; O75445; 66 sites.
DR iPTMnet; O75445; -.
DR PhosphoSitePlus; O75445; -.
DR BioMuta; USH2A; -.
DR EPD; O75445; -.
DR jPOST; O75445; -.
DR PaxDb; O75445; -.
DR PeptideAtlas; O75445; -.
DR PRIDE; O75445; -.
DR Antibodypedia; 53933; 51 antibodies from 10 providers.
DR DNASU; 7399; -.
DR Ensembl; ENST00000307340.8; ENSP00000305941.3; ENSG00000042781.14. [O75445-1]
DR Ensembl; ENST00000366942.3; ENSP00000355909.3; ENSG00000042781.14. [O75445-2]
DR Ensembl; ENST00000674083.1; ENSP00000501296.1; ENSG00000042781.14. [O75445-3]
DR GeneID; 7399; -.
DR KEGG; hsa:7399; -.
DR MANE-Select; ENST00000307340.8; ENSP00000305941.3; NM_206933.4; NP_996816.3.
DR UCSC; uc001hku.1; human. [O75445-1]
DR CTD; 7399; -.
DR DisGeNET; 7399; -.
DR GeneCards; USH2A; -.
DR GeneReviews; USH2A; -.
DR HGNC; HGNC:12601; USH2A.
DR HPA; ENSG00000042781; Group enriched (liver, retina).
DR MalaCards; USH2A; -.
DR MIM; 276901; phenotype.
DR MIM; 608400; gene.
DR MIM; 613809; phenotype.
DR neXtProt; NX_O75445; -.
DR OpenTargets; ENSG00000042781; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR Orphanet; 231178; Usher syndrome type 2.
DR PharmGKB; PA37228; -.
DR VEuPathDB; HostDB:ENSG00000042781; -.
DR eggNOG; KOG1836; Eukaryota.
DR eggNOG; KOG3510; Eukaryota.
DR eggNOG; KOG3513; Eukaryota.
DR GeneTree; ENSGT00940000158456; -.
DR HOGENOM; CLU_000067_0_0_1; -.
DR InParanoid; O75445; -.
DR OMA; CNGVITH; -.
DR OrthoDB; 5155at2759; -.
DR PhylomeDB; O75445; -.
DR TreeFam; TF330287; -.
DR PathwayCommons; O75445; -.
DR SignaLink; O75445; -.
DR BioGRID-ORCS; 7399; 7 hits in 1061 CRISPR screens.
DR ChiTaRS; USH2A; human.
DR GeneWiki; USH2A; -.
DR GenomeRNAi; 7399; -.
DR Pharos; O75445; Tbio.
DR PRO; PR:O75445; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O75445; protein.
DR Bgee; ENSG00000042781; Expressed in right lobe of liver and 16 other tissues.
DR Genevisible; O75445; HS.
DR GO; GO:0016324; C:apical plasma membrane; ISS:BHF-UCL.
DR GO; GO:0005604; C:basement membrane; IDA:HGNC-UCL.
DR GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IDA:HGNC-UCL.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:1990075; C:periciliary membrane compartment; ISS:UniProtKB.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IEA:Ensembl.
DR GO; GO:0001917; C:photoreceptor inner segment; IEA:Ensembl.
DR GO; GO:0002141; C:stereocilia ankle link; ISS:UniProtKB.
DR GO; GO:0002142; C:stereocilia ankle link complex; ISS:UniProtKB.
DR GO; GO:0032421; C:stereocilium bundle; ISS:BHF-UCL.
DR GO; GO:0060171; C:stereocilium membrane; ISS:BHF-UCL.
DR GO; GO:1990696; C:USH2 complex; ISS:UniProtKB.
DR GO; GO:0005518; F:collagen binding; IDA:HGNC-UCL.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0017022; F:myosin binding; ISS:BHF-UCL.
DR GO; GO:0009887; P:animal organ morphogenesis; IBA:GO_Central.
DR GO; GO:0016477; P:cell migration; IBA:GO_Central.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0045184; P:establishment of protein localization; ISS:UniProtKB.
DR GO; GO:0035315; P:hair cell differentiation; ISS:BHF-UCL.
DR GO; GO:0042491; P:inner ear auditory receptor cell differentiation; IEA:Ensembl.
DR GO; GO:0060113; P:inner ear receptor cell differentiation; ISS:BHF-UCL.
DR GO; GO:0048496; P:maintenance of animal organ identity; IMP:HGNC-UCL.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC-UCL.
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:0034446; P:substrate adhesion-dependent cell spreading; IBA:GO_Central.
DR GO; GO:0009888; P:tissue development; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR CDD; cd00055; EGF_Lam; 10.
DR CDD; cd00063; FN3; 30.
DR CDD; cd00110; LamG; 2.
DR Gene3D; 2.60.40.10; -; 33.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR006558; LamG-like.
DR InterPro; IPR001791; Laminin_G.
DR InterPro; IPR008211; Laminin_N.
DR InterPro; IPR002049; LE_dom.
DR InterPro; IPR026915; USH2A.
DR PANTHER; PTHR10574:SF274; PTHR10574:SF274; 16.
DR Pfam; PF00041; fn3; 16.
DR Pfam; PF00053; Laminin_EGF; 10.
DR Pfam; PF02210; Laminin_G_2; 2.
DR Pfam; PF00055; Laminin_N; 1.
DR SMART; SM00180; EGF_Lam; 10.
DR SMART; SM00060; FN3; 33.
DR SMART; SM00282; LamG; 2.
DR SMART; SM00560; LamGL; 1.
DR SMART; SM00136; LamNT; 1.
DR SUPFAM; SSF49265; SSF49265; 22.
DR SUPFAM; SSF49899; SSF49899; 3.
DR PROSITE; PS00022; EGF_1; 7.
DR PROSITE; PS01248; EGF_LAM_1; 7.
DR PROSITE; PS50027; EGF_LAM_2; 10.
DR PROSITE; PS50853; FN3; 35.
DR PROSITE; PS50025; LAM_G_DOMAIN; 2.
DR PROSITE; PS51117; LAMININ_NTER; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Deafness;
KW Disease variant; Disulfide bond; Glycoprotein; Hearing;
KW Laminin EGF-like domain; Membrane; Reference proteome; Repeat;
KW Retinitis pigmentosa; Secreted; Sensory transduction; Signal;
KW Transmembrane; Transmembrane helix; Usher syndrome; Vision.
FT SIGNAL 1..31
FT /evidence="ECO:0000255"
FT CHAIN 32..5202
FT /note="Usherin"
FT /id="PRO_0000229804"
FT TOPO_DOM 32..5042
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 5043..5063
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 5064..5202
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 271..517
FT /note="Laminin N-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00466"
FT DOMAIN 518..574
FT /note="Laminin EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 575..640
FT /note="Laminin EGF-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 641..693
FT /note="Laminin EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 694..746
FT /note="Laminin EGF-like 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 747..794
FT /note="Laminin EGF-like 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 795..846
FT /note="Laminin EGF-like 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 847..899
FT /note="Laminin EGF-like 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 900..950
FT /note="Laminin EGF-like 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 951..1001
FT /note="Laminin EGF-like 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 1002..1052
FT /note="Laminin EGF-like 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00460"
FT DOMAIN 1058..1146
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1148..1244
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1245..1363
FT /note="Fibronectin type-III 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1364..1468
FT /note="Fibronectin type-III 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1517..1709
FT /note="Laminin G-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT DOMAIN 1714..1891
FT /note="Laminin G-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT DOMAIN 1869..1955
FT /note="Fibronectin type-III 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 1957..2054
FT /note="Fibronectin type-III 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2055..2144
FT /note="Fibronectin type-III 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2145..2239
FT /note="Fibronectin type-III 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2243..2330
FT /note="Fibronectin type-III 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2331..2433
FT /note="Fibronectin type-III 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2437..2531
FT /note="Fibronectin type-III 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2535..2622
FT /note="Fibronectin type-III 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2624..2722
FT /note="Fibronectin type-III 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2726..2819
FT /note="Fibronectin type-III 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2820..2923
FT /note="Fibronectin type-III 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 2927..3018
FT /note="Fibronectin type-III 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3022..3112
FT /note="Fibronectin type-III 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3113..3209
FT /note="Fibronectin type-III 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3403..3497
FT /note="Fibronectin type-III 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3501..3589
FT /note="Fibronectin type-III 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3592..3682
FT /note="Fibronectin type-III 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3684..3770
FT /note="Fibronectin type-III 22"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3774..3865
FT /note="Fibronectin type-III 23"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3866..3963
FT /note="Fibronectin type-III 24"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 3964..4067
FT /note="Fibronectin type-III 25"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4068..4153
FT /note="Fibronectin type-III 26"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4157..4261
FT /note="Fibronectin type-III 27"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4262..4357
FT /note="Fibronectin type-III 28"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4358..4445
FT /note="Fibronectin type-III 29"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4446..4530
FT /note="Fibronectin type-III 30"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4534..4630
FT /note="Fibronectin type-III 31"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4636..4733
FT /note="Fibronectin type-III 32"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4734..4827
FT /note="Fibronectin type-III 33"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 4828..4927
FT /note="Fibronectin type-III 34"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT REGION 4518..4541
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 5200..5202
FT /note="PDZ-binding"
FT CARBOHYD 361
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 451
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 587
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 611
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 650
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 697
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 839
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 856
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 862
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 888
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 944
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1011
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1071
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1151
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1174
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1379
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1388
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1479
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1635
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1779
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1903
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2011
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2014
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2048
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2130
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2182
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 2258
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2285
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2322
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2377
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2382
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2407
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2413
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2581
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2584
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2656
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2710
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2770
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2788
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2930
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2937
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2970
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3032
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3099
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3217
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3330
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3419
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3433
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3653
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3694
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3733
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3780
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3849
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 3984
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4202
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4226
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4317
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4418
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4564
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4583
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4691
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4754
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4800
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4943
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 4950
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 518..527
FT /evidence="ECO:0000250"
FT DISULFID 520..536
FT /evidence="ECO:0000250"
FT DISULFID 538..549
FT /evidence="ECO:0000250"
FT DISULFID 552..572
FT /evidence="ECO:0000250"
FT DISULFID 575..584
FT /evidence="ECO:0000250"
FT DISULFID 577..605
FT /evidence="ECO:0000250"
FT DISULFID 608..617
FT /evidence="ECO:0000250"
FT DISULFID 620..638
FT /evidence="ECO:0000250"
FT DISULFID 641..655
FT /evidence="ECO:0000250"
FT DISULFID 643..662
FT /evidence="ECO:0000250"
FT DISULFID 664..673
FT /evidence="ECO:0000250"
FT DISULFID 676..691
FT /evidence="ECO:0000250"
FT DISULFID 694..708
FT /evidence="ECO:0000250"
FT DISULFID 696..715
FT /evidence="ECO:0000250"
FT DISULFID 717..726
FT /evidence="ECO:0000250"
FT DISULFID 729..744
FT /evidence="ECO:0000250"
FT DISULFID 747..759
FT /evidence="ECO:0000250"
FT DISULFID 749..766
FT /evidence="ECO:0000250"
FT DISULFID 768..777
FT /evidence="ECO:0000250"
FT DISULFID 780..792
FT /evidence="ECO:0000250"
FT DISULFID 795..808
FT /evidence="ECO:0000250"
FT DISULFID 797..815
FT /evidence="ECO:0000250"
FT DISULFID 817..826
FT /evidence="ECO:0000250"
FT DISULFID 829..844
FT /evidence="ECO:0000250"
FT DISULFID 847..861
FT /evidence="ECO:0000250"
FT DISULFID 849..868
FT /evidence="ECO:0000250"
FT DISULFID 870..879
FT /evidence="ECO:0000250"
FT DISULFID 882..897
FT /evidence="ECO:0000250"
FT DISULFID 900..913
FT /evidence="ECO:0000250"
FT DISULFID 902..920
FT /evidence="ECO:0000250"
FT DISULFID 922..931
FT /evidence="ECO:0000250"
FT DISULFID 934..948
FT /evidence="ECO:0000250"
FT DISULFID 951..963
FT /evidence="ECO:0000250"
FT DISULFID 953..970
FT /evidence="ECO:0000250"
FT DISULFID 972..982
FT /evidence="ECO:0000250"
FT DISULFID 985..999
FT /evidence="ECO:0000250"
FT DISULFID 1002..1014
FT /evidence="ECO:0000250"
FT DISULFID 1004..1021
FT /evidence="ECO:0000250"
FT DISULFID 1023..1032
FT /evidence="ECO:0000250"
FT DISULFID 1035..1050
FT /evidence="ECO:0000250"
FT DISULFID 1672..1709
FT /evidence="ECO:0000250"
FT DISULFID 1862..1891
FT /evidence="ECO:0000250"
FT DISULFID 3371..3444
FT /evidence="ECO:0000250"
FT DISULFID 3399..3425
FT /evidence="ECO:0000250"
FT VAR_SEQ 1544..1546
FT /note="IKA -> KCV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9624053"
FT /id="VSP_017771"
FT VAR_SEQ 1547..5202
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9624053"
FT /id="VSP_017772"
FT VAR_SEQ 5099
FT /note="M -> MFDSVADISDVSSNVTLKSYTMHFE (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_017773"
FT VARIANT 44
FT /note="G -> R (in USH2A; dbSNP:rs1381795491)"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_071996"
FT VARIANT 125
FT /note="A -> T (in dbSNP:rs10779261)"
FT /evidence="ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:21686329"
FT /id="VAR_025760"
FT VARIANT 163
FT /note="C -> Y (in USH2A)"
FT /evidence="ECO:0000269|PubMed:10909849,
FT ECO:0000269|PubMed:18273898"
FT /id="VAR_025761"
FT VARIANT 180
FT /note="S -> P (in USH2A; dbSNP:rs1171672823)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_071997"
FT VARIANT 218
FT /note="V -> E (in USH2A; dbSNP:rs397518026)"
FT /evidence="ECO:0000269|PubMed:11311042,
FT ECO:0000269|PubMed:17405132"
FT /id="VAR_025762"
FT VARIANT 230
FT /note="V -> M (in USH2A; benign variant; dbSNP:rs45500891)"
FT /evidence="ECO:0000269|PubMed:10909849,
FT ECO:0000269|PubMed:11311042, ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:18273898"
FT /id="VAR_025763"
FT VARIANT 268
FT /note="G -> R (in USH2A; unknown pathological significance;
FT dbSNP:rs111033280)"
FT /evidence="ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:18273898"
FT /id="VAR_054557"
FT VARIANT 280
FT /note="L -> F (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054558"
FT VARIANT 284
FT /note="E -> K (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054559"
FT VARIANT 303
FT /note="R -> C (in USH2A)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054560"
FT VARIANT 303
FT /note="R -> S (in USH2A; dbSNP:rs748465849)"
FT /evidence="ECO:0000269|PubMed:14970843"
FT /id="VAR_054561"
FT VARIANT 307
FT /note="S -> I (in USH2A; unknown pathological significance;
FT dbSNP:rs1553250805)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054562"
FT VARIANT 319
FT /note="C -> Y (in USH2A; dbSNP:rs121912599)"
FT /evidence="ECO:0000269|PubMed:10729113"
FT /id="VAR_025764"
FT VARIANT 334
FT /note="R -> Q (in USH2A; dbSNP:rs758303489)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054563"
FT VARIANT 334
FT /note="R -> W (in USH2A; dbSNP:rs397517963)"
FT /evidence="ECO:0000269|PubMed:10738000,
FT ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:17405132,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:18452394,
FT ECO:0000269|PubMed:19683999"
FT /id="VAR_025765"
FT VARIANT 346
FT /note="N -> H (in USH2A; dbSNP:rs369522997)"
FT /evidence="ECO:0000269|PubMed:10729113,
FT ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:15241801,
FT ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:18273898"
FT /id="VAR_025766"
FT VARIANT 352
FT /note="T -> I (in USH2A; dbSNP:rs780308389)"
FT /evidence="ECO:0000269|PubMed:17405132,
FT ECO:0000269|PubMed:18273898"
FT /id="VAR_054564"
FT VARIANT 357
FT /note="N -> T (in USH2A)"
FT /evidence="ECO:0000269|PubMed:15025721"
FT /id="VAR_054565"
FT VARIANT 365
FT /note="L -> F"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054566"
FT VARIANT 382
FT /note="V -> M (in USH2A; dbSNP:rs750651679)"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_071998"
FT VARIANT 391
FT /note="S -> I (in USH2A; unknown pathological significance;
FT dbSNP:rs949082769)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054567"
FT VARIANT 419
FT /note="C -> F (in USH2A and RP39; dbSNP:rs121912600)"
FT /evidence="ECO:0000269|PubMed:10729113,
FT ECO:0000269|PubMed:15241801, ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:22334370"
FT /id="VAR_025767"
FT VARIANT 453
FT /note="T -> I (found in a renal cell carcinoma sample;
FT somatic mutation)"
FT /evidence="ECO:0000269|PubMed:21248752"
FT /id="VAR_064761"
FT VARIANT 464
FT /note="R -> C (in USH2A; unknown pathological significance;
FT dbSNP:rs1423536179)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054568"
FT VARIANT 478
FT /note="E -> D (in RP39 and USH2A; benign variant;
FT dbSNP:rs35730265)"
FT /evidence="ECO:0000269|PubMed:10738000,
FT ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898"
FT /id="VAR_025768"
FT VARIANT 479
FT /note="F -> S"
FT /evidence="ECO:0000269|PubMed:15025721,
FT ECO:0000269|PubMed:9624053"
FT /id="VAR_054569"
FT VARIANT 516
FT /note="G -> V (in USH2A; unknown pathological significance;
FT dbSNP:rs1415484067)"
FT /id="VAR_054570"
FT VARIANT 517
FT /note="R -> T (in USH2A; unknown pathological significance;
FT dbSNP:rs1393503590)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054571"
FT VARIANT 536
FT /note="C -> R (in USH2A; abolishes interaction with
FT collagen IV; dbSNP:rs111033273)"
FT /evidence="ECO:0000269|PubMed:10909849,
FT ECO:0000269|PubMed:15241801, ECO:0000269|PubMed:18273898"
FT /id="VAR_025769"
FT VARIANT 555
FT /note="L -> V (in USH2A; dbSNP:rs35818432)"
FT /evidence="ECO:0000269|PubMed:11311042,
FT ECO:0000269|PubMed:19683999"
FT /id="VAR_025770"
FT VARIANT 575
FT /note="C -> S (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054572"
FT VARIANT 587
FT /note="Missing (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054573"
FT VARIANT 595
FT /note="F -> S (in dbSNP:rs200496467)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054574"
FT VARIANT 610
FT /note="H -> P (in USH2A; dbSNP:rs1571668556)"
FT /evidence="ECO:0000269|PubMed:12525556"
FT /id="VAR_025771"
FT VARIANT 644
FT /note="D -> V (in dbSNP:rs1805048)"
FT /evidence="ECO:0000269|PubMed:10738000,
FT ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898,
FT ECO:0000269|PubMed:18273898"
FT /id="VAR_025772"
FT VARIANT 691
FT /note="C -> Y (in USH2A)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_071999"
FT VARIANT 703
FT /note="D -> E (in dbSNP:rs45555435)"
FT /evidence="ECO:0000269|PubMed:16098008"
FT /id="VAR_025773"
FT VARIANT 713
FT /note="G -> R (abolishes interaction with collagen IV;
FT dbSNP:rs696723)"
FT /evidence="ECO:0000269|PubMed:10909849,
FT ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:15241801,
FT ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898"
FT /id="VAR_025774"
FT VARIANT 739
FT /note="F -> L (in RP39; unknown pathological significance;
FT dbSNP:rs1212098704)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054575"
FT VARIANT 759
FT /note="C -> F (in RP39 and USH2A; dbSNP:rs80338902)"
FT /evidence="ECO:0000269|PubMed:10775529,
FT ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:12427073,
FT ECO:0000269|PubMed:14970843, ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17405132,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:22334370"
FT /id="VAR_025775"
FT VARIANT 761
FT /note="P -> R (in USH2A)"
FT /evidence="ECO:0000269|PubMed:12525556"
FT /id="VAR_025776"
FT VARIANT 841
FT /note="S -> Y (in dbSNP:rs111033282)"
FT /evidence="ECO:0000269|PubMed:16098008"
FT /id="VAR_025777"
FT VARIANT 911
FT /note="T -> N (in RP39; unknown pathological significance;
FT dbSNP:rs397518006)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054576"
FT VARIANT 934
FT /note="C -> W (in RP39; dbSNP:rs201527662)"
FT /evidence="ECO:0000269|PubMed:21686329"
FT /id="VAR_072000"
FT VARIANT 1047
FT /note="L -> V (in dbSNP:rs727503735)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054577"
FT VARIANT 1059
FT /note="P -> L (in USH2A; unknown pathological significance;
FT dbSNP:rs547581739)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054578"
FT VARIANT 1212
FT /note="P -> L (in USH2A)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054579"
FT VARIANT 1349
FT /note="S -> P (in dbSNP:rs761656866)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054580"
FT VARIANT 1369
FT /note="Missing (in USH2A)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_072001"
FT VARIANT 1442
FT /note="F -> S (in RP39; dbSNP:rs766108245)"
FT /evidence="ECO:0000269|PubMed:24227914"
FT /id="VAR_072002"
FT VARIANT 1470
FT /note="L -> R (in RP39; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:15325563"
FT /id="VAR_054581"
FT VARIANT 1486
FT /note="R -> K (in dbSNP:rs1805049)"
FT /evidence="ECO:0000269|PubMed:10729113,
FT ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:15325563,
FT ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:9624053"
FT /id="VAR_025778"
FT VARIANT 1515
FT /note="T -> M (in USH2A; dbSNP:rs373599651)"
FT /evidence="ECO:0000269|PubMed:10738000"
FT /id="VAR_025779"
FT VARIANT 1572
FT /note="L -> F (in dbSNP:rs111033333)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_054582"
FT VARIANT 1665
FT /note="I -> T (in dbSNP:rs56222536)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_038362"
FT VARIANT 1684
FT /note="P -> L (found in a patient with non-syndromic
FT sensorineural hearing loss; unknown pathological
FT significance; dbSNP:rs771088957)"
FT /evidence="ECO:0000269|PubMed:25388789"
FT /id="VAR_079877"
FT VARIANT 1734
FT /note="G -> R (in USH2A)"
FT /evidence="ECO:0000269|PubMed:20309401"
FT /id="VAR_072003"
FT VARIANT 1757
FT /note="Y -> C"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054583"
FT VARIANT 1777
FT /note="R -> W (in USH2A; dbSNP:rs770329105)"
FT /evidence="ECO:0000269|PubMed:21593743"
FT /id="VAR_072004"
FT VARIANT 1833
FT /note="V -> E (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054584"
FT VARIANT 1836
FT /note="P -> T (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072005"
FT VARIANT 1840
FT /note="G -> V (in USH2A; dbSNP:rs1571941511)"
FT /evidence="ECO:0000269|PubMed:18452394"
FT /id="VAR_072006"
FT VARIANT 1843
FT /note="P -> L (in USH2A; dbSNP:rs200209833)"
FT /evidence="ECO:0000269|PubMed:23737954"
FT /id="VAR_072007"
FT VARIANT 1859
FT /note="F -> C (in RP39)"
FT /evidence="ECO:0000269|PubMed:22334370"
FT /id="VAR_068354"
FT VARIANT 1861
FT /note="G -> S (in USH2A; dbSNP:rs375668376)"
FT /evidence="ECO:0000269|PubMed:23737954"
FT /id="VAR_072008"
FT VARIANT 1953
FT /note="A -> G (in USH2A; unknown pathological significance;
FT dbSNP:rs41302239)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072009"
FT VARIANT 1978
FT /note="P -> S (in RP39; unknown pathological significance;
FT dbSNP:rs75698489)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072010"
FT VARIANT 2080
FT /note="K -> N (in USH2A; unknown pathological significance;
FT dbSNP:rs114402911)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_054585"
FT VARIANT 2086
FT /note="T -> N (in dbSNP:rs149202379)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054586"
FT VARIANT 2106
FT /note="I -> T (in dbSNP:rs6657250)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:19737284, ECO:0000269|PubMed:21686329"
FT /id="VAR_038363"
FT VARIANT 2116
FT /note="H -> R (in USH2A; unknown pathological significance;
FT dbSNP:rs111033450)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072011"
FT VARIANT 2128
FT /note="C -> F (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072012"
FT VARIANT 2128
FT /note="C -> Y (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072013"
FT VARIANT 2169
FT /note="I -> T (in dbSNP:rs10864219)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:19737284, ECO:0000269|PubMed:20507924,
FT ECO:0000269|PubMed:21686329"
FT /id="VAR_038364"
FT VARIANT 2196
FT /note="S -> T (in USH2A; benign variant; dbSNP:rs79444516)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072014"
FT VARIANT 2237
FT /note="D -> Y (in RP39; unknown pathological significance;
FT dbSNP:rs1177455978)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072015"
FT VARIANT 2238
FT /note="E -> A (in USH2A; benign variant; dbSNP:rs41277212)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:20507924"
FT /id="VAR_054587"
FT VARIANT 2249
FT /note="A -> D (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054588"
FT VARIANT 2260
FT /note="S -> P (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072016"
FT VARIANT 2265..2266
FT /note="EY -> D (in USH2A)"
FT /id="VAR_054589"
FT VARIANT 2292
FT /note="R -> H (in USH2A; benign variant; dbSNP:rs41277210)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_054590"
FT VARIANT 2354
FT /note="R -> H (in USH2A; dbSNP:rs201386640)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054591"
FT VARIANT 2377
FT /note="N -> S (in dbSNP:rs111033394)"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_072017"
FT VARIANT 2394
FT /note="N -> K"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_072018"
FT VARIANT 2460
FT /note="R -> H (in RP39; dbSNP:rs368681648)"
FT /evidence="ECO:0000269|PubMed:22334370"
FT /id="VAR_068355"
FT VARIANT 2562
FT /note="V -> A (in USH2A; benign variant; dbSNP:rs56385601)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_054592"
FT VARIANT 2573
FT /note="R -> H (in RP39; unknown pathological significance;
FT dbSNP:rs189748047)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072019"
FT VARIANT 2639
FT /note="S -> P (in USH2A; unknown pathological significance;
FT dbSNP:rs398124620)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072020"
FT VARIANT 2738
FT /note="D -> N (in USH2A; dbSNP:rs750687826)"
FT /evidence="ECO:0000269|PubMed:23737954"
FT /id="VAR_072021"
FT VARIANT 2744
FT /note="W -> C (in USH2A; dbSNP:rs1424639717)"
FT /evidence="ECO:0000269|PubMed:21686329"
FT /id="VAR_072022"
FT VARIANT 2752
FT /note="G -> R (in USH2A; dbSNP:rs201863550)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_072023"
FT VARIANT 2786
FT /note="F -> S (in USH2A; unknown pathological significance;
FT dbSNP:rs111033262)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072024"
FT VARIANT 2795
FT /note="A -> S (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054593"
FT VARIANT 2811
FT /note="P -> T (found in a family with autosomal recessive
FT deafness; unknown pathological significance;
FT dbSNP:rs111033529)"
FT /evidence="ECO:0000269|PubMed:28281779"
FT /id="VAR_079508"
FT VARIANT 2820
FT /note="V -> I (in dbSNP:rs59174500)"
FT /id="VAR_061350"
FT VARIANT 2875
FT /note="R -> Q (in dbSNP:rs12118814)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:19737284, ECO:0000269|PubMed:20507924"
FT /id="VAR_038365"
FT VARIANT 2886
FT /note="L -> F (in dbSNP:rs41277200)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:19737284"
FT /id="VAR_054594"
FT VARIANT 2930
FT /note="N -> K (in RP39; unknown pathological significance;
FT dbSNP:rs754774098)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072025"
FT VARIANT 3088
FT /note="E -> K (in dbSNP:rs56056328)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054595"
FT VARIANT 3099
FT /note="N -> S (in dbSNP:rs41277194)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_038366"
FT VARIANT 3115
FT /note="T -> A (in dbSNP:rs56032526)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:19737284"
FT /id="VAR_054596"
FT VARIANT 3124
FT /note="R -> G (in USH2A; unknown pathological significance;
FT dbSNP:rs1453306308)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054597"
FT VARIANT 3144
FT /note="D -> N (in dbSNP:rs11120645)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_038367"
FT VARIANT 3199
FT /note="N -> D (in dbSNP:rs4129843)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:19737284"
FT /id="VAR_034064"
FT VARIANT 3251
FT /note="C -> R (in USH2A; dbSNP:rs527236118)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054598"
FT VARIANT 3263..3269
FT /note="Missing (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072026"
FT VARIANT 3267
FT /note="C -> R (in USH2A; dbSNP:rs111033263)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054599"
FT VARIANT 3282
FT /note="C -> R (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054600"
FT VARIANT 3335
FT /note="I -> M"
FT /evidence="ECO:0000269|PubMed:17296898"
FT /id="VAR_038368"
FT VARIANT 3358
FT /note="C -> Y (in RP39; dbSNP:rs148660051)"
FT /evidence="ECO:0000269|PubMed:20507924,
FT ECO:0000269|PubMed:22334370"
FT /id="VAR_068356"
FT VARIANT 3384
FT /note="S -> Y (in RP39; unknown pathological significance;
FT dbSNP:rs553202000)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072027"
FT VARIANT 3411
FT /note="E -> A (in dbSNP:rs10864198)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:20507924, ECO:0000269|PubMed:21686329"
FT /id="VAR_050087"
FT VARIANT 3448
FT /note="E -> K (in USH2A; unknown pathological significance;
FT dbSNP:rs368049814)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072028"
FT VARIANT 3462
FT /note="T -> I (in USH2A; unknown pathological significance;
FT dbSNP:rs1416602859)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072029"
FT VARIANT 3472
FT /note="Y -> YY (in USH2A)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054601"
FT VARIANT 3479
FT /note="W -> C (in USH2A; unknown pathological significance;
FT dbSNP:rs1308924086)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072030"
FT VARIANT 3504
FT /note="P -> A (found in a family with autosomal recessive
FT deafness; unknown pathological significance;
FT dbSNP:rs200372118)"
FT /evidence="ECO:0000269|PubMed:28281779"
FT /id="VAR_079509"
FT VARIANT 3504
FT /note="P -> T (in USH2A)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054602"
FT VARIANT 3515
FT /note="D -> G (in USH2A; dbSNP:rs527236119)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_072031"
FT VARIANT 3521
FT /note="W -> R (in USH2A; dbSNP:rs111033264)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054603"
FT VARIANT 3529
FT /note="G -> S (in USH2A; unknown pathological significance;
FT dbSNP:rs111033439)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072032"
FT VARIANT 3546
FT /note="G -> R (in USH2A; dbSNP:rs1553261372)"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_072033"
FT VARIANT 3571
FT /note="T -> M (in USH2A; dbSNP:rs202175091)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:19737284"
FT /id="VAR_054604"
FT VARIANT 3590
FT /note="P -> L (in dbSNP:rs115403785)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054605"
FT VARIANT 3606
FT /note="L -> P (in RP39; unknown pathological significance;
FT dbSNP:rs1402464909)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072034"
FT VARIANT 3618
FT /note="G -> S (in RP39; unknown pathological significance;
FT dbSNP:rs778158900)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072035"
FT VARIANT 3669
FT /note="S -> R (in RP39)"
FT /evidence="ECO:0000269|PubMed:22334370"
FT /id="VAR_068357"
FT VARIANT 3719
FT /note="R -> H (in RP39; unknown pathological significance;
FT dbSNP:rs527236139)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072036"
FT VARIANT 3747
FT /note="Y -> C (in USH2A)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_072037"
FT VARIANT 3835
FT /note="T -> I (in dbSNP:rs11120616)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:19737284, ECO:0000269|PubMed:22004887"
FT /id="VAR_050088"
FT VARIANT 3844
FT /note="I -> M (in USH2A; unknown pathological significance;
FT dbSNP:rs765306173)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072038"
FT VARIANT 3868
FT /note="M -> V (in dbSNP:rs35309576)"
FT /evidence="ECO:0000269|PubMed:17085681,
FT ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_054606"
FT VARIANT 3893
FT /note="P -> T (in dbSNP:rs41303285)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054607"
FT VARIANT 3894
FT /note="N -> D (in USH2A)"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_072039"
FT VARIANT 3895
FT /note="G -> E (in USH2A; dbSNP:rs1472714005)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054608"
FT VARIANT 3904
FT /note="R -> K (in USH2A; unknown pathological significance;
FT dbSNP:rs182741276)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072040"
FT VARIANT 3976
FT /note="T -> M (in USH2A; dbSNP:rs142381713)"
FT /evidence="ECO:0000269|PubMed:17405132"
FT /id="VAR_054609"
FT VARIANT 4054
FT /note="S -> I (in USH2A; dbSNP:rs1571953381)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054610"
FT VARIANT 4094
FT /note="N -> K (in RP39; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072041"
FT VARIANT 4115
FT /note="R -> C (in USH2A and RP39; associated with M-4425;
FT dbSNP:rs111033275)"
FT /evidence="ECO:0000269|PubMed:15015129,
FT ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:22334370"
FT /id="VAR_025780"
FT VARIANT 4174
FT /note="S -> R (in USH2A; unknown pathological significance;
FT dbSNP:rs754560357)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072042"
FT VARIANT 4192
FT /note="R -> H (in RP39; unknown pathological significance;
FT dbSNP:rs199605265)"
FT /evidence="ECO:0000269|PubMed:20507924,
FT ECO:0000269|PubMed:22334370"
FT /id="VAR_068358"
FT VARIANT 4203
FT /note="Q -> R (in dbSNP:rs148556640)"
FT /evidence="ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:21835308"
FT /id="VAR_066665"
FT VARIANT 4232
FT /note="P -> R (in USH2A; dbSNP:rs745371873)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054611"
FT VARIANT 4248
FT /note="H -> N (in RP39; unknown pathological significance;
FT dbSNP:rs372137776)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072043"
FT VARIANT 4269
FT /note="P -> R (in USH2A; unknown pathological significance;
FT dbSNP:rs1553252475)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072044"
FT VARIANT 4337
FT /note="T -> M (in USH2A; dbSNP:rs527236137)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054612"
FT VARIANT 4386
FT /note="I -> F (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:26377068"
FT /id="VAR_075587"
FT VARIANT 4425
FT /note="T -> M (in USH2A and RP39; associated with C-4115;
FT dbSNP:rs201238640)"
FT /evidence="ECO:0000269|PubMed:15015129,
FT ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:22334370"
FT /id="VAR_025781"
FT VARIANT 4433
FT /note="V -> L (in USH2A; benign variant;
FT dbSNP:rs111033381)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_054613"
FT VARIANT 4439
FT /note="T -> I (in USH2A; dbSNP:rs753330544)"
FT /evidence="ECO:0000269|PubMed:18273898,
FT ECO:0000269|PubMed:20440071"
FT /id="VAR_054614"
FT VARIANT 4445..4449
FT /note="ENMDS -> DL (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072045"
FT VARIANT 4447
FT /note="M -> V (in RP39; unknown pathological significance;
FT dbSNP:rs139474806)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072046"
FT VARIANT 4487
FT /note="Y -> C (in USH2A; dbSNP:rs768893227)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054615"
FT VARIANT 4493
FT /note="R -> H (in dbSNP:rs138879998)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_072047"
FT VARIANT 4570
FT /note="R -> H (in USH2A; unknown pathological significance;
FT dbSNP:rs730254)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072048"
FT VARIANT 4592
FT /note="Q -> H (in USH2A; dbSNP:rs1350039852)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054616"
FT VARIANT 4611
FT /note="A -> V (in dbSNP:rs376077079)"
FT /evidence="ECO:0000269|PubMed:19737284"
FT /id="VAR_072049"
FT VARIANT 4616
FT /note="G -> V (in dbSNP:rs527236124)"
FT /evidence="ECO:0000269|PubMed:21593743"
FT /id="VAR_072050"
FT VARIANT 4624
FT /note="F -> V (in dbSNP:rs1369860869)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054617"
FT VARIANT 4662
FT /note="Q -> E (in USH2A; unknown pathological significance;
FT dbSNP:rs41302237)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072051"
FT VARIANT 4674
FT /note="R -> G (in RP39; dbSNP:rs80338904)"
FT /evidence="ECO:0000269|PubMed:17296898"
FT /id="VAR_038369"
FT VARIANT 4692
FT /note="G -> R (in USH2A; likely benign variant;
FT dbSNP:rs45549044)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_061351"
FT VARIANT 4739
FT /note="R -> K (in dbSNP:rs12085354)"
FT /id="VAR_050089"
FT VARIANT 4763
FT /note="G -> R (in USH2A; unknown pathological significance;
FT dbSNP:rs397517990)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072052"
FT VARIANT 4778
FT /note="A -> D (in dbSNP:rs113447586)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072053"
FT VARIANT 4795
FT /note="L -> R (in USH2A; dbSNP:rs199851839)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054618"
FT VARIANT 4808
FT /note="C -> R (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072054"
FT VARIANT 4817
FT /note="G -> R (in USH2A; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072055"
FT VARIANT 4818
FT /note="P -> L (in USH2A; dbSNP:rs143344549)"
FT /evidence="ECO:0000269|PubMed:17085681"
FT /id="VAR_054619"
FT VARIANT 4838
FT /note="G -> E (in dbSNP:rs41315587)"
FT /evidence="ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_061352"
FT VARIANT 4840
FT /note="L -> P (in RP39; unknown pathological significance;
FT dbSNP:rs143275144)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072056"
FT VARIANT 4844
FT /note="T -> M (in RP39; unknown pathological significance;
FT dbSNP:rs200570742)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072057"
FT VARIANT 4848
FT /note="R -> Q (in dbSNP:rs77211159)"
FT /evidence="ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_072058"
FT VARIANT 4881
FT /note="S -> T (in dbSNP:rs200949691)"
FT /evidence="ECO:0000269|PubMed:21593743"
FT /id="VAR_072059"
FT VARIANT 4918
FT /note="T -> M (in USH2A; unknown pathological significance;
FT dbSNP:rs56136489)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072060"
FT VARIANT 4921
FT /note="E -> K (in dbSNP:rs754834155)"
FT /evidence="ECO:0000269|PubMed:22004887"
FT /id="VAR_072061"
FT VARIANT 5026
FT /note="K -> E (in dbSNP:rs41308435)"
FT /evidence="ECO:0000269|PubMed:19737284,
FT ECO:0000269|PubMed:20507924"
FT /id="VAR_072062"
FT VARIANT 5031
FT /note="R -> W (in dbSNP:rs56038610)"
FT /evidence="ECO:0000269|PubMed:18273898"
FT /id="VAR_054620"
FT VARIANT 5063
FT /note="L -> R (in RP39)"
FT /evidence="ECO:0000269|PubMed:24227914"
FT /id="VAR_072063"
FT VARIANT 5143
FT /note="R -> C (in USH2A; likely benign variant;
FT dbSNP:rs145771342)"
FT /evidence="ECO:0000269|PubMed:23737954"
FT /id="VAR_072064"
FT VARIANT 5143
FT /note="R -> H (in RP39; benign variant; dbSNP:rs111033435)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072065"
FT VARIANT 5145
FT /note="V -> I (in RP39; unknown pathological significance;
FT dbSNP:rs111033269)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072066"
FT VARIANT 5188
FT /note="S -> G (in RP39; benign variant; dbSNP:rs58257972)"
FT /evidence="ECO:0000269|PubMed:20507924"
FT /id="VAR_072067"
FT CONFLICT 237
FT /note="F -> C (in Ref. 1; AAC23748 and 2; AAF75819)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 5202 AA; 575600 MW; 06A123CA9C0F7F1D CRC64;
MNCPVLSLGS GFLFQVIEML IFAYFASISL TESRGLFPRL ENVGAFKKVS IVPTQAVCGL
PDRSTFCHSS AAAESIQFCT QRFCIQDCPY RSSHPTYTAL FSAGLSSCIT PDKNDLHPNA
HSNSASFIFG NHKSCFSSPP SPKLMASFTL AVWLKPEQQG VMCVIEKTVD GQIVFKLTIS
EKETMFYYRT VNGLQPPIKV MTLGRILVKK WIHLSVQVHQ TKISFFINGV EKDHTPFNAR
TLSGSITDFA SGTVQIGQSL NGLEQFVGRM QDFRLYQVAL TNREILEVFS GDLLRLHAQS
HCRCPGSHPR VHPLAQRYCI PNDAGDTADN RVSRLNPEAH PLSFVNDNDV GTSWVSNVFT
NITQLNQGVT ISVDLENGQY QVFYIIIQFF SPQPTEIRIQ RKKENSLDWE DWQYFARNCG
AFGMKNNGDL EKPDSVNCLQ LSNFTPYSRG NVTFSILTPG PNYRPGYNNF YNTPSLQEFV
KATQIRFHFH GQYYTTETAV NLRHRYYAVD EITISGRCQC HGHADNCDTT SQPYRCLCSQ
ESFTEGLHCD RCLPLYNDKP FRQGDQVYAF NCKPCQCNSH SKSCHYNISV DPFPFEHFRG
GGGVCDDCEH NTTGRNCELC KDYFFRQVGA DPSAIDVCKP CDCDTVGTRN GSILCDQIGG
QCNCKRHVSG RQCNQCQNGF YNLQELDPDG CSPCNCNTSG TVDGDITCHQ NSGQCKCKAN
VIGLRCDHCN FGFKFLRSFN DVGCEPCQCN LHGSVNKFCN PHSGQCECKK EAKGLQCDTC
RENFYGLDVT NCKACDCDTA GSLPGTVCNA KTGQCICKPN VEGRQCNKCL EGNFYLRQNN
SFLCLPCNCD KTGTINGSLL CNKSTGQCPC KLGVTGLRCN QCEPHRYNLT IDNFQHCQMC
ECDSLGTLPG TICDPISGQC LCVPNRQGRR CNQCQPGFYI SPGNATGCLP CSCHTTGAVN
HICNSLTGQC VCQDASIAGQ RCDQCKDHYF GFDPQTGRCQ PCNCHLSGAL NETCHLVTGQ
CFCKQFVTGS KCDACVPSAS HLDVNNLLGC SKTPFQQPPP RGQVQSSSAI NLSWSPPDSP
NAHWLTYSLL RDGFEIYTTE DQYPYSIQYF LDTDLLPYTK YSYYIETTNV HGSTRSVAVT
YKTKPGVPEG NLTLSYIIPI GSDSVTLTWT TLSNQSGPIE KYILSCAPLA GGQPCVSYEG
HETSATIWNL VPFAKYDFSV QACTSGGCLH SLPITVTTAQ APPQRLSPPK MQKISSTELH
VEWSPPAELN GIIIRYELYM RRLRSTKETT SEESRVFQSS GWLSPHSFVE SANENALKPP
QTMTTITGLE PYTKYEFRVL AVNMAGSVSS AWVSERTGES APVFMIPPSV FPLSSYSLNI
SWEKPADNVT RGKVVGYDIN MLSEQSPQQS IPMAFSQLLH TAKSQELSYT VEGLKPYRIY
EFTITLCNSV GCVTSASGAG QTLAAAPAQL RPPLVKGINS TTIHLRWFPP EELNGPSPIY
QLERRESSLP ALMTTMMKGI RFIGNGYCKF PSSTHPVNTD FTGIKASFRT KVPEGLIVFA
ASPGNQEEYF ALQLKKGRLY FLFDPQGSPV EVTTTNDHGK QYSDGKWHEI IAIRHQAFGQ
ITLDGIYTGS SAILNGSTVI GDNTGVFLGG LPRSYTILRK DPEIIQKGFV GCLKDVHFMK
NYNPSAIWEP LDWQSSEEQI NVYNSWEGCP ASLNEGAQFL GAGFLELHPY MFHGGMNFEI
SFKFRTDQLN GLLLFVYNKD GPDFLAMELK SGILTFRLNT SLAFTQVDLL LGLSYCNGKW
NKVIIKKEGS FISASVNGLM KHASESGDQP LVVNSPVYVG GIPQELLNSY QHLCLEQGFG
GCMKDVKFTR GAVVNLASVS SGAVRVNLDG CLSTDSAVNC RGNDSILVYQ GKEQSVYEGG
LQPFTEYLYR VIASHEGGSV YSDWSRGRTT GAAPQSVPTP SRVRSLNGYS IEVTWDEPVV
RGVIEKYILK AYSEDSTRPP RMPSASAEFV NTSNLTGILT GLLPFKNYAV TLTACTLAGC
TESSHALNIS TPQEAPQEVQ PPVAKSLPSS LLLSWNPPKK ANGIITQYCL YMDGRLIYSG
SEENYIVTDL AVFTPHQFLL SACTHVGCTN SSWVLLYTAQ LPPEHVDSPV LTVLDSRTIH
IQWKQPRKIS GILERYVLYM SNHTHDFTIW SVIYNSTELF QDHMLQYVLP GNKYLIKLGA
CTGGGCTVSE ASEALTDEDI PEGVPAPKAH SYSPDSFNVS WTEPEYPNGV ITSYGLYLDG
ILIHNSSELS YRAYGFAPWS LHSFRVQACT AKGCALGPLV ENRTLEAPPE GTVNVFVKTQ
GSRKAHVRWE APFRPNGLLT HSVLFTGIFY VDPVGNNYTL LNVTKVMYSG EETNLWVLID
GLVPFTNYTV QVNISNSQGS LITDPITIAM PPGAPDGVLP PRLSSATPTS LQVVWSTPAR
NNAPGSPRYQ LQMRSGDSTH GFLELFSNPS ASLSYEVSDL QPYTEYMFRL VASNGFGSAH
SSWIPFMTAE DKPGPVVPPI LLDVKSRMML VTWQHPRKSN GVITHYNIYL HGRLYLRTPG
NVTNCTVMHL HPYTAYKFQV EACTSKGCSL SPESQTVWTL PGAPEGIPSP ELFSDTPTSV
IISWQPPTHP NGLVENFTIE RRVKGKEEVT TLVTLPRSHS MRFIDKTSAL SPWTKYEYRV
LMSTLHGGTN SSAWVEVTTR PSRPAGVQPP VVTVLEPDAV QVTWKPPLIQ NGDILSYEIH
MPDPHITLTN VTSAVLSQKV THLIPFTNYS VTIVACSGGN GYLGGCTESL PTYVTTHPTV
PQNVGPLSVI PLSESYVVIS WQPPSKPNGP NLRYELLRRK IQQPLASNPP EDLNRWHNIY
SGTQWLYEDK GLSRFTTYEY MLFVHNSVGF TPSREVTVTT LAGLPERGAN LTASVLNHTA
IDVRWAKPTV QDLQGEVEYY TLFWSSATSN DSLKILPDVN SHVIGHLKPN TEYWIFISVF
NGVHSINSAG LHATTCDGEP QGMLPPEVVI INSTAVRVIW TSPSNPNGVV TEYSIYVNNK
LYKTGMNVPG SFILRDLSPF TIYDIQVEVC TIYACVKSNG TQITTVEDTP SDIPTPTIRG
ITSRSLQIDW VSPRKPNGII LGYDLLWKTW YPCAKTQKLV QDQSDELCKA VRCQKPESIC
GHICYSSEAK VCCNGVLYNP KPGHRCCEEK YIPFVLNSTG VCCGGRIQEA QPNHQCCSGY
YARILPGEVC CPDEQHNRVS VGIGDSCCGR MPYSTSGNQI CCAGRLHDGH GQKCCGRQIV
SNDLECCGGE EGVVYNRLPG MFCCGQDYVN MSDTICCSAS SGESKAHIKK NDPVPVKCCE
TELIPKSQKC CNGVGYNPLK YVCSDKISTG MMMKETKECR ILCPASMEAT EHCGRCDFNF
TSHICTVIRG SHNSTGKASI EEMCSSAEET IHTGSVNTYS YTDVNLKPYM TYEYRISAWN
SYGRGLSKAV RARTKEDVPQ GVSPPTWTKI DNLEDTIVLN WRKPIQSNGP IIYYILLRNG
IERFRGTSLS FSDKEGIQPF QEYSYQLKAC TVAGCATSSK VVAATTQGVP ESILPPSITA
LSAVALHLSW SVPEKSNGVI KEYQIRQVGK GLIHTDTTDR RQHTVTGLQP YTNYSFTLTA
CTSAGCTSSE PFLGQTLQAA PEGVWVTPRH IIINSTTVEL YWSLPEKPNG LVSQYQLSRN
GNLLFLGGSE EQNFTDKNLE PNSRYTYKLE VKTGGGSSAS DDYIVQTPMS TPEEIYPPYN
ITVIGPYSIF VAWIPPGILI PEIPVEYNVL LNDGSVTPLA FSVGHHQSTL LENLTPFTQY
EIRIQACQNG SCGVSSRMFV KTPEAAPMDL NSPVLKALGS ACIEIKWMPP EKPNGIIINY
FIYRRPAGIE EESVLFVWSE GALEFMDEGD TLRPFTLYEY RVRACNSKGS VESLWSLTQT
LEAPPQDFPA PWAQATSAHS VLLNWTKPES PNGIISHYRV VYQERPDDPT FNSPTVHAFT
VKGTSHQAHL YGLEPFTTYR IGVVAANHAG EILSPWTLIQ TLESSPSGLR NFIVEQKENG
RALLLQWSEP MRTNGVIKTY NIFSDGFLEY SGLNRQFLFR RLDPFTLYTL TLEACTRAGC
AHSAPQPLWT DEAPPDSQLA PTVHSVKSTS VELSWSEPVN PNGKIIRYEV IRRCFEGKAW
GNQTIQADEK IVFTEYNTER NTFMYNDTGL QPWTQCEYKI YTWNSAGHTC SSWNVVRTLQ
APPEGLSPPV ISYVSMNPQK LLISWIPPEQ SNGIIQSYRL QRNEMLYPFS FDPVTFNYTD
EELLPFSTYS YALQACTSGG CSTSKPTSIT TLEAAPSEVS PPDLWAVSAT QMNVCWSPPT
VQNGKITKYL VRYDNKESLA GQGLCLLVSH LQPYSQYNFS LVACTNGGCT ASVSKSAWTM
EALPENMDSP TLQVTGSESI EITWKPPRNP NGQIRSYELR RDGTIVYTGL ETRYRDFTLT
PGVEYSYTVT ASNSQGGILS PLVKDRTSPS APSGMEPPKL QARGPQEILV NWDPPVRTNG
DIINYTLFIR ELFERETKII HINTTHNSFG MQSYIVNQLK PFHRYEIRIQ ACTTLGCASS
DWTFIQTPEI APLMQPPPHL EVQMAPGGFQ PTVSLLWTGP LQPNGKVLYY ELYRRQIATQ
PRKSNPVLIY NGSSTSFIDS ELLPFTEYEY QVWAVNSAGK APSSWTWCRT GPAPPEGLRA
PTFHVISSTQ AVVNISAPGK PNGIVSLYRL FSSSAHGAET VLSEGMATQQ TLHGLQAFTN
YSIGVEACTC FNCCSKGPTA ELRTHPAPPS GLSSPQIGTL ASRTASFRWS PPMFPNGVIH
SYELQFHVAC PPDSALPCTP SQIETKYTGL GQKASLGGLQ PYTTYKLRVV AHNEVGSTAS
EWISFTTQKE LPQYRAPFSV DSNLSVVCVN WSDTFLLNGQ LKEYVLTDGG RRVYSGLDTT
LYIPRTADKT FFFQVICTTD EGSVKTPLIQ YDTSTGLGLV LTTPGKKKGS RSKSTEFYSE
LWFIVLMAML GLILLAIFLS LILQRKIHKE PYIRERPPLV PLQKRMSPLN VYPPGENHMG
LADTKIPRSG TPVSIRSNRS ACVLRIPSQN QTSLTYSQGS LHRSVSQLMD IQDKKVLMDN
SLWEAIMGHN SGLYVDEEDL MNAIKDFSSV TKERTTFTDT HL
