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Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein)

 USH2A_HUMAN             Reviewed;        5202 AA.
O75445; Q5VVM9; Q6S362; Q9NS27;
04-APR-2006, integrated into UniProtKB/Swiss-Prot.
04-APR-2006, sequence version 3.
25-OCT-2017, entry version 149.
RecName: Full=Usherin;
AltName: Full=Usher syndrome type IIa protein;
AltName: Full=Usher syndrome type-2A protein;
Flags: Precursor;
Name=USH2A;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN USH2A, TISSUE
SPECIFICITY, AND VARIANTS SER-479 AND LYS-1486.
PubMed=9624053; DOI=10.1126/science.280.5370.1753;
Eudy J.D., Weston M.D., Yao S.F., Hoover D.M., Rehm H.L., Ahmad I.,
Ma-Edmonds M., Yan D., Cheng J.J., Beisel K.W., Ayuso C., Cremers C.,
Davenport S., Moller C., Talmadge C.B., Tamayo M., Swaroop A.,
Morton C.C., Kimberling W.J., Sumegi J.;
"Mutation of a gene encoding a protein with extracellular matrix
motifs in Usher syndrome type IIa.";
Science 280:1753-1757(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN USH2A, VARIANT
LYS-1486, AND VARIANTS USH2A TYR-319; HIS-346 AND PHE-419.
PubMed=10729113; DOI=10.1086/302855;
Weston M.D., Eudy J.D., Fugita S., Yao S.-F., Usami S., Cremers C.,
Greenberg J., Ramesar R., Martini A., Moller C., Smith R.J.,
Sumegi J., Kimberling W.J.;
"Genomic structure and identification of novel mutations in usherin,
the gene responsible for Usher syndrome type IIa.";
Am. J. Hum. Genet. 66:1199-1210(2000).
[3]
ERRATUM.
Weston M.D., Eudy J.D., Fugita S., Yao S.-F., Usami S., Cremers C.,
Greenberg J., Ramesar R., Martini A., Moller C., Smith R.J.,
Sumegi J., Kimberling W.J.;
Am. J. Hum. Genet. 66:2020-2020(2000).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
VARIANTS USH2A CYS-4115 AND MET-4425.
PubMed=15015129; DOI=10.1086/383096;
Van Wijk E., Pennings R.J.E., Te Brinke H., Claassen A., Yntema H.G.,
Hoefsloot L.H., Cremers F.P.M., Cremers C.W.R.J., Kremer H.;
"Identification of 51 novel exons of the Usher syndrome type 2A
(USH2A) gene that encode multiple conserved functional domains and
that are mutated in patients with Usher syndrome type II.";
Am. J. Hum. Genet. 74:738-744(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[6]
TISSUE SPECIFICITY.
PubMed=11788194; DOI=10.1016/S0378-5955(01)00344-6;
Bhattacharya G., Miller C., Kimberling W.J., Jablonski M.M.,
Cosgrove D.;
"Localization and expression of usherin: a novel basement membrane
protein defective in people with Usher's syndrome type IIa.";
Hear. Res. 163:1-11(2002).
[7]
TISSUE SPECIFICITY.
PubMed=12433396; DOI=10.1016/S0378-5955(02)00635-4;
Pearsall N., Bhattacharya G., Wisecarver J., Adams J., Cosgrove D.,
Kimberling W.;
"Usherin expression is highly conserved in mouse and human tissues.";
Hear. Res. 174:55-63(2002).
[8]
SUBCELLULAR LOCATION, AND INTERACTION WITH COLLAGEN.
PubMed=14676276; DOI=10.1242/jcs.00850;
Bhattacharya G., Kalluri R., Orten D.J., Kimberling W.J., Cosgrove D.;
"A domain-specific usherin/collagen IV interaction may be required for
stable integration into the basement membrane superstructure.";
J. Cell Sci. 117:233-242(2004).
[9]
INTERACTION WITH FIBRONECTIN.
PubMed=16114888; DOI=10.1021/bi050245u;
Bhattacharya G., Cosgrove D.;
"Evidence for functional importance of usherin/fibronectin
interactions in retinal basement membranes.";
Biochemistry 44:11518-11524(2005).
[10]
ALTERNATIVE SPLICING (ISOFORM 3).
PubMed=16301217; DOI=10.1093/hmg/ddi416;
Adato A., Lefevre G., Delprat B., Michel V., Michalski N.,
Chardenoux S., Weil D., El-Amraoui A., Petit C.;
"Usherin, the defective protein in Usher syndrome type IIA, is likely
to be a component of interstereocilia ankle links in the inner ear
sensory cells.";
Hum. Mol. Genet. 14:3921-3932(2005).
[11]
INTERACTION WITH USH1C.
PubMed=16301216; DOI=10.1093/hmg/ddi417;
Reiners J., van Wijk E., Maerker T., Zimmermann U., Juergens K.,
te Brinke H., Overlack N., Roepman R., Knipper M., Kremer H.,
Wolfrum U.;
"Scaffold protein harmonin (USH1C) provides molecular links between
Usher syndrome type 1 and type 2.";
Hum. Mol. Genet. 14:3933-3943(2005).
[12]
INTERACTION WITH WHRN.
PubMed=16434480; DOI=10.1093/hmg/ddi490;
van Wijk E., van der Zwaag B., Peters T., Zimmermann U., Te Brinke H.,
Kersten F.F.J., Maerker T., Aller E., Hoefsloot L.H.,
Cremers C.W.R.J., Cremers F.P.M., Wolfrum U., Knipper M., Roepman R.,
Kremer H.;
"The DFNB31 gene product whirlin connects to the Usher protein network
in the cochlea and retina by direct association with USH2A and
VLGR1.";
Hum. Mol. Genet. 15:751-765(2006).
[13]
REVIEW ON VARIANTS.
PubMed=12786748; DOI=10.1034/j.1399-0004.2003.00109.x;
Ahmed Z.M., Riazuddin S., Riazuddin S., Wilcox E.R.;
"The molecular genetics of Usher syndrome.";
Clin. Genet. 63:431-444(2003).
[14]
INTERACTION WITH NINL.
PubMed=18826961; DOI=10.1093/hmg/ddn312;
van Wijk E., Kersten F.F.J., Kartono A., Mans D.A., Brandwijk K.,
Letteboer S.J.F., Peters T.A., Maerker T., Yan X., Cremers C.W.R.J.,
Cremers F.P.M., Wolfrum U., Roepman R., Kremer H.;
"Usher syndrome and Leber congenital amaurosis are molecularly linked
via a novel isoform of the centrosomal ninein-like protein.";
Hum. Mol. Genet. 18:51-64(2009).
[15]
INTERACTION WITH PDZD7, AND VARIANT USH2A ILE-4439.
PubMed=20440071; DOI=10.1172/JCI39715;
Ebermann I., Phillips J.B., Liebau M.C., Koenekoop R.K., Schermer B.,
Lopez I., Schafer E., Roux A.F., Dafinger C., Bernd A., Zrenner E.,
Claustres M., Blanco B., Nurnberg G., Nurnberg P., Ruland R.,
Westerfield M., Benzing T., Bolz H.J.;
"PDZD7 is a modifier of retinal disease and a contributor to digenic
Usher syndrome.";
J. Clin. Invest. 120:1812-1823(2010).
[16]
INVOLVEMENT IN RP39, AND VARIANT RP39 PHE-759.
PubMed=10775529; DOI=10.1086/302926;
Rivolta C., Sweklo E.A., Berson E.L., Dryja T.P.;
"Missense mutation in the USH2A gene: association with recessive
retinitis pigmentosa without hearing loss.";
Am. J. Hum. Genet. 66:1975-1978(2000).
[17]
VARIANTS USH2A TYR-163; MET-230; ARG-536 AND ARG-713.
PubMed=10909849; DOI=10.1038/sj.ejhg.5200491;
Dreyer B., Tranebjaerg L., Rosenberg T., Weston M.D., Kimberling W.J.,
Nilssen O.;
"Identification of novel USH2A mutations: implications for the
structure of USH2A protein.";
Eur. J. Hum. Genet. 8:500-506(2000).
[18]
VARIANTS USH2A TRP-334 AND MET-1515, AND VARIANTS ASP-478; VAL-644 AND
LYS-1486.
PubMed=10738000;
DOI=10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N;
Adato A., Weston M.D., Berry A., Kimberling W.J., Bonne-Tamir A.;
"Three novel mutations and twelve polymorphisms identified in the
USH2A gene in Israeli USH2 families.";
Hum. Mutat. 15:388-388(2000).
[19]
VARIANTS USH2A GLU-218; MET-230 AND VAL-555.
PubMed=11311042; DOI=10.1006/exer.2000.0978;
Leroy B.P., Aragon-Martin J.A., Weston M.D., Bessant D.A.R.,
Willis C., Webster A.R., Bird A.C., Kimberling W.J., Payne A.M.,
Bhattacharya S.S.;
"Spectrum of mutations in USH2A in British patients with Usher
syndrome type II.";
Exp. Eye Res. 72:503-509(2001).
[20]
VARIANT RP39 PHE-759.
PubMed=12427073; DOI=10.1001/archopht.120.11.1566;
Rivolta C., Berson E.L., Dryja T.P.;
"Paternal uniparental heterodisomy with partial isodisomy of
chromosome 1 in a patient with retinitis pigmentosa without hearing
loss and a missense mutation in the Usher syndrome type II gene
USH2A.";
Arch. Ophthalmol. 120:1566-1571(2002).
[21]
VARIANT USH2A ARG-713, AND VARIANT RP39 PHE-759.
PubMed=12112664; DOI=10.1002/humu.9042;
Najera C., Beneyto M., Blanca J., Aller E., Fontcuberta A.,
Millan J.M., Ayuso C.;
"Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish
patients with Usher syndrome types I and II, respectively.";
Hum. Mutat. 20:76-77(2002).
[22]
VARIANTS USH2A PRO-610 AND ARG-761.
PubMed=12525556; DOI=10.1136/jmg.40.1.e8;
Bernal S., Ayuso C., Antinolo G., Gimenez A., Borrego S.,
Trujillo M.J., Marcos I., Calaf M., Del Rio E., Baiget M.;
"Mutations in USH2A in Spanish patients with autosomal recessive
retinitis pigmentosa: high prevalence and phenotypic variation.";
J. Med. Genet. 40:E8-E8(2003).
[23]
VARIANTS USH2A TRP-334; HIS-346 AND THR-357, AND VARIANTS SER-479 AND
VAL-644.
PubMed=15025721; DOI=10.1046/j.1399-0004.2004.00216.x;
Ouyang X.M., Yan D., Hejtmancik J.F., Jacobson S.G., Li A.R., Du L.L.,
Angeli S., Kaiser M., Balkany T., Liu X.Z.;
"Mutational spectrum in Usher syndrome type II.";
Clin. Genet. 65:288-293(2004).
[24]
ERRATUM.
Ouyang X.M., Yan D., Hejtmancik J.F., Jacobson S.G., Li A.R., Du L.L.,
Angeli S., Kaiser M., Balkany T., Liu X.Z.;
Clin. Genet. 65:433-433(2004).
[25]
VARIANT USH2A SER-303, AND VARIANT RP PHE-759.
PubMed=14970843; DOI=10.1038/sj.ejhg.5201138;
Aller E., Najera C., Millan J.M., Oltra J.S., Perez-Garrigues H.,
Vilela C., Navea A., Beneyto M.;
"Genetic analysis of 2299delG and C759F mutations (USH2A) in patients
with visual and/or auditory impairments.";
Eur. J. Hum. Genet. 12:407-410(2004).
[26]
VARIANTS USH2A ILE-307; ILE-391; PHE-419; CYS-464; VAL-516 THR-517;
SER-575; ASN-587 DEL AND LEU-1059, VARIANTS RP39/USH2A ASP-478 AND
PHE-759, VARIANTS RP39 LEU-739; ASN-911 AND ARG-1470, AND VARIANTS
THR-125; MET-230; ARG-268; PHE-365; VAL-644; ARG-713; VAL-1047 AND
LYS-1486.
PubMed=15325563; DOI=10.1016/j.exer.2004.03.005;
Seyedahmadi B.J., Rivolta C., Keene J.A., Berson E.L., Dryja T.P.;
"Comprehensive screening of the USH2A gene in Usher syndrome type II
and non-syndromic recessive retinitis pigmentosa.";
Exp. Eye Res. 79:167-173(2004).
[27]
VARIANTS USH2A HIS-346; PHE-419; ARG-536 AND ARG-713.
PubMed=15241801; DOI=10.1002/humu.9259;
Pennings R.J.E., Te Brinke H., Weston M.D., Claassen A., Orten D.J.,
Weekamp H., Van Aarem A., Huygen P.L.M., Deutman A.F., Hoefsloot L.H.,
Cremers F.P.M., Cremers C.W.R.J., Kimberling W.J., Kremer H.;
"USH2A mutation analysis in 70 Dutch families with Usher syndrome type
II.";
Hum. Mutat. 24:185-185(2004).
[28]
VARIANT RP39 PHE-759, AND VARIANTS THR-125; ASP-478; VAL-644; GLU-703;
TYR-841 AND LYS-1486.
PubMed=16098008; DOI=10.1111/j.1399-0004.2005.00481.x;
Bernal S., Meda C., Solans T., Ayuso C., Garcia-Sandoval B.,
Valverde D., Del Rio E., Baiget M.;
"Clinical and genetic studies in Spanish patients with Usher syndrome
type II: description of new mutations and evidence for a lack of
genotype-phenotype correlation.";
Clin. Genet. 68:204-214(2005).
[29]
VARIANTS USH2A ASP-2249; HIS-2354; ARG-3251; ARG-3267; TYR-3472 INS;
MET-3571; MET-4337 AND LEU-4818, AND VARIANTS ARG-713; PHE-1572;
THR-1665; THR-2106; THR-2169; ALA-2238; GLN-2875; PHE-2886; SER-3099;
ASN-3144; ALA-3411 AND VAL-3868.
PubMed=17085681; DOI=10.1136/jmg.2006.041764;
Aller E., Jaijo T., Beneyto M., Najera C., Oltra S., Ayuso C.,
Baiget M., Carballo M., Antinolo G., Valverde D., Moreno F.,
Vilela C., Collado D., Perez-Garrigues H., Navea A., Millan J.M.;
"Identification of 14 novel mutations in the long isoform of USH2A in
Spanish patients with Usher syndrome type II.";
J. Med. Genet. 43:E55-E55(2006).
[30]
VARIANT RP39 GLY-4674, AND VARIANTS THR-125; ASP-478; VAL-644;
ARG-713; LYS-1486; THR-1665; THR-2106; THR-2169; GLN-2875; SER-3099;
ASN-3144 AND MET-3335.
PubMed=17296898; DOI=10.1001/archopht.125.2.219;
Kaiserman N., Obolensky A., Banin E., Sharon D.;
"Novel USH2A mutations in Israeli patients with retinitis pigmentosa
and Usher syndrome type 2.";
Arch. Ophthalmol. 125:219-224(2007).
[31]
VARIANTS USH2A GLU-218; PHE-280; LYS-284; TRP-334; GLN-334; HIS-346;
ILE-352; PHE-759; GLU-1833; SER-2795; ARG-3282; MET-3571; GLU-3895;
MET-3976; CYS-4115 AND MET-4425, AND VARIANT PHE-1572.
PubMed=17405132; DOI=10.1002/humu.20513;
Baux D., Larrieu L., Blanchet C., Hamel C., Ben Salah S., Vielle A.,
Gilbert-Dussardier B., Holder M., Calvas P., Philip N., Edery P.,
Bonneau D., Claustres M., Malcolm S., Roux A.-F.;
"Molecular and in silico analyses of the full-length isoform of
usherin identify new pathogenic alleles in Usher type II patients.";
Hum. Mutat. 28:781-789(2007).
[32]
VARIANTS USH2A TRP-334 AND VAL-1840.
PubMed=18452394; DOI=10.1089/gte.2007.0107;
Auslender N., Bandah D., Rizel L., Behar D.M., Shohat M., Banin E.,
Allon-Shalev S., Sharony R., Sharon D., Ben-Yosef T.;
"Four USH2A founder mutations underlie the majority of Usher syndrome
type 2 cases among non-Ashkenazi Jews.";
Genet. Test. 12:289-294(2008).
[33]
VARIANTS USH2A TYR-163; ARG-268; CYS-303; TRP-334; HIS-346; ILE-352;
ARG-536; PHE-759; LEU-1212; ASP-2265-ASP-TYR-2266 DELINS ASP;
GLY-3124; THR-3504; ARG-3521; ILE-4054; ARG-4232; ILE-4439; CYS-4487;
HIS-4592 AND ARG-4795, AND VARIANTS THR-125; MET-230; ASP-478;
SER-595; VAL-644; ARG-713; PRO-1349; LYS-1486; PHE-1572; THR-1665;
CYS-1757; ASN-2080; ASN-2086; THR-2106; THR-2169; ALA-2238; HIS-2292;
ALA-2562; GLN-2875; PHE-2886; LYS-3088; SER-3099; ALA-3115; ASN-3144;
ASP-3199; ALA-3411; LEU-3590; ILE-3835; VAL-3868; THR-3893; CYS-4115;
LEU-4433; VAL-4624 AND TRP-5031.
PubMed=18273898; DOI=10.1002/humu.9524;
Dreyer B., Brox V., Tranebjaerg L., Rosenberg T., Sadeghi A.M.,
Moeller C., Nilssen O.;
"Spectrum of USH2A mutations in Scandinavian patients with Usher
syndrome type II.";
Hum. Mutat. 29:451-451(2008).
[34]
VARIANTS USH2A PRO-180; TYR-691; SER-1369 DEL; ARG-2752; GLY-3515;
MET-3571 AND CYS-3747, AND VARIANTS LYS-1486; THR-2106; THR-2169;
GLN-2875; PHE-2886; ALA-3115; ASP-3199; ALA-3411; ILE-3835; VAL-3868;
ARG-4203; HIS-4493; VAL-4611; GLU-4838; GLN-4848 AND GLU-5026.
PubMed=19737284; DOI=10.1111/j.1399-0004.2009.01257.x;
Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Mizuta K., Mineta H.,
Minoshima S.;
"Identification of 11 novel mutations in USH2A among Japanese patients
with Usher syndrome type 2.";
Clin. Genet. 76:383-391(2009).
[35]
VARIANTS USH2A TRP-334 AND VAL-555.
PubMed=19683999; DOI=10.1167/iovs.09-4085;
Jaijo T., Aller E., Garcia-Garcia G., Aparisi M.J., Bernal S.,
Avila-Fernandez A., Barragan I., Baiget M., Ayuso C., Antinolo G.,
Diaz-Llopis M., Kulm M., Beneyto M., Najera C., Millan J.M.;
"Microarray-based mutation analysis of 183 Spanish families with Usher
syndrome.";
Invest. Ophthalmol. Vis. Sci. 51:1311-1317(2010).
[36]
VARIANTS USH2A THR-1836; GLY-1953; ASN-2080; ARG-2116; PHE-2128;
TYR-2128; THR-2196; ALA-2238; PRO-2260; HIS-2292; ALA-2562; PRO-2639;
SER-2786; 3263-ILE--GLY-3269 DEL; LYS-3448; ILE-3462; CYS-3479;
SER-3529; MET-3844; LYS-3904; ARG-4174; ARG-4269; LEU-4433;
4445-GLU--SER-4449 DELINS ASP-LEU; HIS-4570; GLU-4662; ARG-4692;
ARG-4763; ASP-4778; ARG-4808; ARG-4817 AND MET-4918, VARIANTS RP39
SER-1978; TYR-2237; HIS-2573; LYS-2930; TYR-3358; TYR-3384; PRO-3606;
SER-3618; HIS-3719; LYS-4094; HIS-4192; ASN-4248; VAL-4447; PRO-4840;
MET-4844; HIS-5143; ILE-5145 AND GLY-5188, AND VARIANTS PHE-1572;
THR-1665; THR-2169; GLN-2875; SER-3099; ASN-3144; ALA-3411; VAL-3868;
GLU-4838; GLN-4848 AND GLU-5026.
PubMed=20507924; DOI=10.1136/jmg.2009.075143;
McGee T.L., Seyedahmadi B.J., Sweeney M.O., Dryja T.P., Berson E.L.;
"Novel mutations in the long isoform of the USH2A gene in patients
with Usher syndrome type II or non-syndromic retinitis pigmentosa.";
J. Med. Genet. 47:499-506(2010).
[37]
VARIANT USH2A ARG-1734.
PubMed=20309401; DOI=10.1167/3.9.454;
Liu X., Tang Z., Li C., Yang K., Gan G., Zhang Z., Liu J., Jiang F.,
Wang Q., Liu M.;
"Novel USH2A compound heterozygous mutations cause RP/USH2 in a
Chinese family.";
Mol. Vis. 16:454-461(2010).
[38]
VARIANT ARG-4203.
PubMed=21835308; DOI=10.1016/j.ajhg.2011.07.012;
Doi H., Yoshida K., Yasuda T., Fukuda M., Fukuda Y., Morita H.,
Ikeda S., Kato R., Tsurusaki Y., Miyake N., Saitsu H., Sakai H.,
Miyatake S., Shiina M., Nukina N., Koyano S., Tsuji S., Kuroiwa Y.,
Matsumoto N.;
"Exome sequencing reveals a homozygous SYT14 mutation in adult-onset,
autosomal-recessive spinocerebellar ataxia with psychomotor
retardation.";
Am. J. Hum. Genet. 89:320-327(2011).
[39]
VARIANT USH2A TRP-1777, AND VARIANTS VAL-4616 AND THR-4881.
PubMed=21593743; DOI=10.1038/jhg.2011.45;
Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Usami S., Mizuta K.,
Mineta H., Minoshima S.;
"Novel USH2A mutations in Japanese Usher syndrome type 2 patients:
marked differences in the mutation spectrum between the Japanese and
other populations.";
J. Hum. Genet. 56:484-490(2011).
[40]
VARIANT RP39 TRP-934, VARIANT USH2A CYS-2744, AND VARIANTS THR-125;
LYS-1486; THR-2106; THR-2169 AND ALA-3411.
PubMed=21686329;
Xu W., Dai H., Lu T., Zhang X., Dong B., Li Y.;
"Seven novel mutations in the long isoform of the USH2A gene in
Chinese families with nonsyndromic retinitis pigmentosa and Usher
syndrome Type II.";
Mol. Vis. 17:1537-1552(2011).
[41]
VARIANT ILE-453.
PubMed=21248752; DOI=10.1038/nature09639;
Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P.,
Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A.,
Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C.,
Jia M., Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A.,
Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S.,
Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A.,
Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C.,
Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R.,
Futreal P.A.;
"Exome sequencing identifies frequent mutation of the SWI/SNF complex
gene PBRM1 in renal carcinoma.";
Nature 469:539-542(2011).
[42]
VARIANTS USH2A ARG-44; MET-382; ARG-3546 AND ASP-3894, AND VARIANTS
SER-2377; LYS-2394; ILE-3835 AND LYS-4921.
PubMed=22004887; DOI=10.1186/1750-1172-6-65;
Garcia-Garcia G., Aparisi M.J., Jaijo T., Rodrigo R., Leon A.M.,
Avila-Fernandez A., Blanco-Kelly F., Bernal S., Navarro R.,
Diaz-Llopis M., Baiget M., Ayuso C., Millan J.M., Aller E.;
"Mutational screening of the USH2A gene in Spanish USH patients
reveals 23 novel pathogenic mutations.";
Orphanet J. Rare Dis. 6:65-65(2011).
[43]
VARIANTS RP39 PHE-419; PHE-759; CYS-1859; HIS-2460; TYR-3358;
ARG-3669; CYS-4115; HIS-4192 AND MET-4425.
PubMed=22334370; DOI=10.1002/humu.22045;
Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L.,
Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J.,
Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U.,
Branham K.E., den Hollander A.I., Hoischen A., Hoyng C.,
Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P.,
Scheffer H.;
"Next-generation genetic testing for retinitis pigmentosa.";
Hum. Mutat. 33:963-972(2012).
[44]
VARIANTS RP39 SER-1442 AND ARG-5063.
PubMed=24227914;
Mendez-Vidal C., Gonzalez-Del Pozo M., Vela-Boza A., Santoyo-Lopez J.,
Lopez-Domingo F.J., Vazquez-Marouschek C., Dopazo J., Borrego S.,
Antinolo G.;
"Whole-exome sequencing identifies novel compound heterozygous
mutations in USH2A in Spanish patients with autosomal recessive
retinitis pigmentosa.";
Mol. Vis. 19:2187-2195(2013).
[45]
VARIANTS USH2A LEU-1843; SER-1861; ASN-2738 AND CYS-5143.
PubMed=23737954; DOI=10.1371/journal.pone.0063832;
Huang X.F., Xiang P., Chen J., Xing D.J., Huang N., Min Q., Gu F.,
Tong Y., Pang C.P., Qu J., Jin Z.B.;
"Targeted exome sequencing identified novel USH2A mutations in Usher
syndrome families.";
PLoS ONE 8:E63832-E63832(2013).
[46]
VARIANT USH2A PHE-4386.
PubMed=26377068; DOI=10.1186/s12881-015-0223-9;
Shu H.R., Bi H., Pan Y.C., Xu H.Y., Song J.X., Hu J.;
"Targeted exome sequencing reveals novel USH2A mutations in Chinese
patients with simplex Usher syndrome.";
BMC Med. Genet. 16:83-83(2015).
-!- FUNCTION: Involved in hearing and vision.
-!- SUBUNIT: Interacts with collagen IV and fibronectin via its
laminin EGF-like domains. Interaction with collagen may be
required for stable integration into the basement membrane.
Interacts with USH1C and WHRN. Interacts with NINL. Interacts with
PDZD7. {ECO:0000269|PubMed:14676276, ECO:0000269|PubMed:16114888,
ECO:0000269|PubMed:16301216, ECO:0000269|PubMed:16434480,
ECO:0000269|PubMed:18826961, ECO:0000269|PubMed:20440071}.
-!- INTERACTION:
Q9Y6N9-4:USH1C; NbExp=3; IntAct=EBI-11621644, EBI-11523636;
Q9ES64-3:Ush1c (xeno); NbExp=2; IntAct=EBI-11621644, EBI-7418919;
-!- SUBCELLULAR LOCATION: Cell projection, stereocilium membrane
{ECO:0000269|PubMed:14676276}; Single-pass type I membrane protein
{ECO:0000269|PubMed:14676276}. Note=Probable component of the
interstereocilia ankle links in the inner ear sensory cells.
-!- SUBCELLULAR LOCATION: Isoform 2: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1; Synonyms=b;
IsoId=O75445-1; Sequence=Displayed;
Name=2;
IsoId=O75445-2; Sequence=VSP_017771, VSP_017772;
Name=3;
IsoId=O75445-3; Sequence=VSP_017773;
-!- TISSUE SPECIFICITY: Present in the basement membrane of many, but
not all tissues. Expressed in retina, cochlea, small and large
intestine, pancreas, bladder, prostate, esophagus, trachea,
thymus, salivary glands, placenta, ovary, fallopian tube, uterus
and testis. Absent in many other tissues such as heart, lung,
liver, kidney and brain. In the retina, it is present in the
basement membranes in the Bruch's layer choroid capillary basement
membranes, where it localizes just beneath the retinal pigment
epithelial cells (at protein level). Weakly expressed. Isoform 2
is expressed in fetal eye, cochlea and heart, and at very low
level in brain, CNS, intestine, skeleton, tongue, kidney and lung.
Isoform 2 is not expressed in stomach and liver. In adult tissues,
isoform 2 is expressed in neural retina and testis, and at low
level in brain, heart, kidney and liver. Isoform 1 displays a
similar pattern of expression but is expressed at very low level
in fetal cochlea. {ECO:0000269|PubMed:11788194,
ECO:0000269|PubMed:12433396, ECO:0000269|PubMed:15015129,
ECO:0000269|PubMed:9624053}.
-!- DOMAIN: The PDZ-binding motif probably mediates the association
with some of the PDZ domains of USH1C and WHRN. {ECO:0000250}.
-!- DISEASE: Usher syndrome 2A (USH2A) [MIM:276901]: USH is a
genetically heterogeneous condition characterized by the
association of retinitis pigmentosa with sensorineural deafness.
Age at onset and differences in auditory and vestibular function
distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2
(USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by
congenital mild hearing impairment with normal vestibular
responses. {ECO:0000269|PubMed:10729113,
ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:10909849,
ECO:0000269|PubMed:11311042, ECO:0000269|PubMed:12112664,
ECO:0000269|PubMed:12525556, ECO:0000269|PubMed:14970843,
ECO:0000269|PubMed:15015129, ECO:0000269|PubMed:15025721,
ECO:0000269|PubMed:15241801, ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:18452394,
ECO:0000269|PubMed:19683999, ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20309401, ECO:0000269|PubMed:20440071,
ECO:0000269|PubMed:20507924, ECO:0000269|PubMed:21593743,
ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:22004887,
ECO:0000269|PubMed:23737954, ECO:0000269|PubMed:26377068,
ECO:0000269|PubMed:9624053}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Retinitis pigmentosa 39 (RP39) [MIM:613809]: A retinal
dystrophy belonging to the group of pigmentary retinopathies.
Retinitis pigmentosa is characterized by retinal pigment deposits
visible on fundus examination and primary loss of rod
photoreceptor cells followed by secondary loss of cone
photoreceptors. Patients typically have night vision blindness and
loss of midperipheral visual field. As their condition progresses,
they lose their far peripheral visual field and eventually central
vision as well. {ECO:0000269|PubMed:10775529,
ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:12427073,
ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008,
ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:20507924,
ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:22334370,
ECO:0000269|PubMed:24227914}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-----------------------------------------------------------------------
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EMBL; AF055580; AAC23748.2; -; mRNA.
EMBL; AF091889; AAF75819.1; -; Genomic_DNA.
EMBL; AF091873; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091875; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091876; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091874; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091877; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091879; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091881; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091883; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091888; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091887; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091886; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091885; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091884; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091882; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091880; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AF091878; AAF75819.1; JOINED; Genomic_DNA.
EMBL; AY481573; AAS47698.1; -; mRNA.
EMBL; AL445650; CAH70620.1; -; Genomic_DNA.
EMBL; AC138024; CAH70620.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAH70620.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAH71587.1; -; Genomic_DNA.
EMBL; AC138024; CAH71587.1; JOINED; Genomic_DNA.
EMBL; AL445650; CAH71587.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAH71588.1; -; Genomic_DNA.
EMBL; AC092799; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AC093581; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AC119429; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AC138024; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AL139259; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AL358452; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AL445650; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AL513305; CAH71588.1; JOINED; Genomic_DNA.
EMBL; AL513305; CAH73621.1; -; Genomic_DNA.
EMBL; AC138024; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AC119429; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AC093581; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AC092799; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AL445650; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AL358452; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AL139259; CAH73621.1; JOINED; Genomic_DNA.
EMBL; AL139259; CAI23041.1; -; Genomic_DNA.
EMBL; AL513305; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AL445650; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AL358452; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AC138024; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AC119429; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AC093581; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AC092799; CAI23041.1; JOINED; Genomic_DNA.
EMBL; AL358452; CAI19189.1; -; Genomic_DNA.
EMBL; AL513305; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AL445650; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AL139259; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AC138024; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AC119429; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AC093581; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AC092799; CAI19189.1; JOINED; Genomic_DNA.
EMBL; AL445650; CAH70621.1; -; Genomic_DNA.
EMBL; AC092799; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AC093581; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AC119429; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AC138024; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AL139259; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AL513305; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AL358858; CAH70621.1; JOINED; Genomic_DNA.
EMBL; AL358452; CAH70621.1; JOINED; Genomic_DNA.
CCDS; CCDS1516.1; -. [O75445-2]
CCDS; CCDS31025.1; -. [O75445-1]
RefSeq; NP_009054.5; NM_007123.5.
RefSeq; NP_996816.2; NM_206933.2.
UniGene; Hs.655974; -.
ProteinModelPortal; O75445; -.
SMR; O75445; -.
BioGrid; 113242; 3.
CORUM; O75445; -.
IntAct; O75445; 3.
STRING; 9606.ENSP00000305941; -.
iPTMnet; O75445; -.
PhosphoSitePlus; O75445; -.
BioMuta; USH2A; -.
EPD; O75445; -.
PaxDb; O75445; -.
PeptideAtlas; O75445; -.
PRIDE; O75445; -.
Ensembl; ENST00000307340; ENSP00000305941; ENSG00000042781. [O75445-1]
Ensembl; ENST00000366942; ENSP00000355909; ENSG00000042781. [O75445-2]
GeneID; 7399; -.
KEGG; hsa:7399; -.
UCSC; uc001hku.1; human. [O75445-1]
CTD; 7399; -.
DisGeNET; 7399; -.
EuPathDB; HostDB:ENSG00000042781.12; -.
GeneCards; USH2A; -.
GeneReviews; USH2A; -.
H-InvDB; HIX0028527; -.
HGNC; HGNC:12601; USH2A.
MalaCards; USH2A; -.
MIM; 276901; phenotype.
MIM; 608400; gene.
MIM; 613809; phenotype.
neXtProt; NX_O75445; -.
OpenTargets; ENSG00000042781; -.
Orphanet; 791; Retinitis pigmentosa.
Orphanet; 231178; Usher syndrome type 2.
PharmGKB; PA37228; -.
eggNOG; KOG1836; Eukaryota.
eggNOG; KOG3510; Eukaryota.
eggNOG; ENOG410Y1E5; LUCA.
GeneTree; ENSGT00890000139348; -.
HOGENOM; HOG000124780; -.
HOVERGEN; HBG094138; -.
InParanoid; O75445; -.
KO; K19636; -.
OMA; YQVWAVN; -.
OrthoDB; EOG091G003E; -.
PhylomeDB; O75445; -.
TreeFam; TF330287; -.
ChiTaRS; USH2A; human.
GeneWiki; USH2A; -.
GenomeRNAi; 7399; -.
PRO; PR:O75445; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000042781; -.
CleanEx; HS_USH2A; -.
Genevisible; O75445; HS.
GO; GO:0016324; C:apical plasma membrane; ISS:BHF-UCL.
GO; GO:0005604; C:basement membrane; IDA:HGNC.
GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
GO; GO:0005737; C:cytoplasm; IDA:HGNC.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:1990075; C:periciliary membrane compartment; IEA:Ensembl.
GO; GO:0032391; C:photoreceptor connecting cilium; IEA:Ensembl.
GO; GO:0001917; C:photoreceptor inner segment; IEA:Ensembl.
GO; GO:0002142; C:stereocilia ankle link complex; ISS:BHF-UCL.
GO; GO:0032421; C:stereocilium bundle; ISS:BHF-UCL.
GO; GO:0060171; C:stereocilium membrane; ISS:BHF-UCL.
GO; GO:1990696; C:USH2 complex; IEA:Ensembl.
GO; GO:0005518; F:collagen binding; IDA:HGNC.
GO; GO:0017022; F:myosin binding; ISS:BHF-UCL.
GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
GO; GO:0045184; P:establishment of protein localization; IEA:Ensembl.
GO; GO:0035315; P:hair cell differentiation; ISS:BHF-UCL.
GO; GO:0060113; P:inner ear receptor cell differentiation; ISS:BHF-UCL.
GO; GO:0048496; P:maintenance of animal organ identity; IMP:HGNC.
GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC.
GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
GO; GO:0050953; P:sensory perception of light stimulus; IMP:HGNC.
GO; GO:0007605; P:sensory perception of sound; IMP:HGNC.
GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
CDD; cd00063; FN3; 30.
Gene3D; 2.60.120.260; -; 1.
Gene3D; 2.60.40.10; -; 33.
InterPro; IPR013320; ConA-like_dom.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR008979; Galactose-bd-like.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR006558; LamG-like.
InterPro; IPR002049; Laminin_EGF.
InterPro; IPR001791; Laminin_G.
InterPro; IPR008211; Laminin_N.
InterPro; IPR026915; USH2A.
PANTHER; PTHR10574:SF274; PTHR10574:SF274; 18.
Pfam; PF00041; fn3; 16.
Pfam; PF00053; Laminin_EGF; 10.
Pfam; PF02210; Laminin_G_2; 2.
Pfam; PF00055; Laminin_N; 1.
SMART; SM00180; EGF_Lam; 10.
SMART; SM00060; FN3; 33.
SMART; SM00282; LamG; 2.
SMART; SM00560; LamGL; 1.
SMART; SM00136; LamNT; 1.
SUPFAM; SSF49265; SSF49265; 23.
SUPFAM; SSF49899; SSF49899; 3.
PROSITE; PS00022; EGF_1; 7.
PROSITE; PS01248; EGF_LAM_1; 7.
PROSITE; PS50027; EGF_LAM_2; 10.
PROSITE; PS50853; FN3; 35.
PROSITE; PS50025; LAM_G_DOMAIN; 2.
PROSITE; PS51117; LAMININ_NTER; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Cell projection;
Complete proteome; Deafness; Disease mutation; Disulfide bond;
Glycoprotein; Hearing; Laminin EGF-like domain; Membrane;
Polymorphism; Reference proteome; Repeat; Retinitis pigmentosa;
Secreted; Sensory transduction; Signal; Transmembrane;
Transmembrane helix; Usher syndrome; Vision.
SIGNAL 1 31 {ECO:0000255}.
CHAIN 32 5202 Usherin.
/FTId=PRO_0000229804.
TOPO_DOM 32 5042 Extracellular. {ECO:0000255}.
TRANSMEM 5043 5063 Helical. {ECO:0000255}.
TOPO_DOM 5064 5202 Cytoplasmic. {ECO:0000255}.
DOMAIN 271 517 Laminin N-terminal. {ECO:0000255|PROSITE-
ProRule:PRU00466}.
DOMAIN 518 574 Laminin EGF-like 1. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 575 640 Laminin EGF-like 2. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 641 693 Laminin EGF-like 3. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 694 746 Laminin EGF-like 4. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 747 794 Laminin EGF-like 5. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 795 846 Laminin EGF-like 6. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 847 899 Laminin EGF-like 7. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 900 950 Laminin EGF-like 8. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 951 1001 Laminin EGF-like 9. {ECO:0000255|PROSITE-
ProRule:PRU00460}.
DOMAIN 1002 1052 Laminin EGF-like 10.
{ECO:0000255|PROSITE-ProRule:PRU00460}.
DOMAIN 1058 1146 Fibronectin type-III 1.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 1148 1244 Fibronectin type-III 2.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 1245 1363 Fibronectin type-III 3.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 1364 1468 Fibronectin type-III 4.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 1517 1709 Laminin G-like 1. {ECO:0000255|PROSITE-
ProRule:PRU00122}.
DOMAIN 1714 1891 Laminin G-like 2. {ECO:0000255|PROSITE-
ProRule:PRU00122}.
DOMAIN 1869 1955 Fibronectin type-III 5.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 1957 2054 Fibronectin type-III 6.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2055 2144 Fibronectin type-III 7.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2145 2239 Fibronectin type-III 8.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2243 2330 Fibronectin type-III 9.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2331 2433 Fibronectin type-III 10.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2437 2531 Fibronectin type-III 11.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2535 2622 Fibronectin type-III 12.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2624 2722 Fibronectin type-III 13.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2726 2819 Fibronectin type-III 14.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2820 2923 Fibronectin type-III 15.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 2927 3018 Fibronectin type-III 16.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3022 3112 Fibronectin type-III 17.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3113 3209 Fibronectin type-III 18.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3403 3497 Fibronectin type-III 19.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3501 3589 Fibronectin type-III 20.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3592 3682 Fibronectin type-III 21.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3684 3770 Fibronectin type-III 22.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3774 3865 Fibronectin type-III 23.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3866 3963 Fibronectin type-III 24.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 3964 4067 Fibronectin type-III 25.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4068 4153 Fibronectin type-III 26.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4157 4261 Fibronectin type-III 27.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4262 4357 Fibronectin type-III 28.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4358 4445 Fibronectin type-III 29.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4446 4530 Fibronectin type-III 30.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4534 4630 Fibronectin type-III 31.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4636 4733 Fibronectin type-III 32.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4734 4827 Fibronectin type-III 33.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
DOMAIN 4828 4927 Fibronectin type-III 34.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
MOTIF 5200 5202 PDZ-binding.
CARBOHYD 361 361 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 451 451 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 587 587 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 611 611 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 650 650 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 697 697 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 839 839 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 856 856 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 862 862 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 888 888 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 944 944 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1011 1011 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1071 1071 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1151 1151 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1174 1174 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1379 1379 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1388 1388 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1479 1479 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1635 1635 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1779 1779 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1903 1903 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2011 2011 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2014 2014 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2048 2048 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2130 2130 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2182 2182 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2195 2195 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2258 2258 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2285 2285 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2322 2322 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2377 2377 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2382 2382 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2407 2407 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2413 2413 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2581 2581 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2584 2584 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2656 2656 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2710 2710 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2770 2770 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2788 2788 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2930 2930 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2937 2937 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2970 2970 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3032 3032 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3099 3099 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3217 3217 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3330 3330 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3419 3419 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3433 3433 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3653 3653 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3694 3694 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3733 3733 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3780 3780 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3849 3849 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 3984 3984 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4202 4202 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4226 4226 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4317 4317 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4418 4418 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4564 4564 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4583 4583 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4691 4691 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4754 4754 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4800 4800 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4943 4943 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 4950 4950 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 518 527 {ECO:0000250}.
DISULFID 520 536 {ECO:0000250}.
DISULFID 538 549 {ECO:0000250}.
DISULFID 552 572 {ECO:0000250}.
DISULFID 575 584 {ECO:0000250}.
DISULFID 577 605 {ECO:0000250}.
DISULFID 608 617 {ECO:0000250}.
DISULFID 620 638 {ECO:0000250}.
DISULFID 641 655 {ECO:0000250}.
DISULFID 643 662 {ECO:0000250}.
DISULFID 664 673 {ECO:0000250}.
DISULFID 676 691 {ECO:0000250}.
DISULFID 694 708 {ECO:0000250}.
DISULFID 696 715 {ECO:0000250}.
DISULFID 717 726 {ECO:0000250}.
DISULFID 729 744 {ECO:0000250}.
DISULFID 747 759 {ECO:0000250}.
DISULFID 749 766 {ECO:0000250}.
DISULFID 768 777 {ECO:0000250}.
DISULFID 780 792 {ECO:0000250}.
DISULFID 795 808 {ECO:0000250}.
DISULFID 797 815 {ECO:0000250}.
DISULFID 817 826 {ECO:0000250}.
DISULFID 829 844 {ECO:0000250}.
DISULFID 847 861 {ECO:0000250}.
DISULFID 849 868 {ECO:0000250}.
DISULFID 870 879 {ECO:0000250}.
DISULFID 882 897 {ECO:0000250}.
DISULFID 900 913 {ECO:0000250}.
DISULFID 902 920 {ECO:0000250}.
DISULFID 922 931 {ECO:0000250}.
DISULFID 934 948 {ECO:0000250}.
DISULFID 951 963 {ECO:0000250}.
DISULFID 953 970 {ECO:0000250}.
DISULFID 972 982 {ECO:0000250}.
DISULFID 985 999 {ECO:0000250}.
DISULFID 1002 1014 {ECO:0000250}.
DISULFID 1004 1021 {ECO:0000250}.
DISULFID 1023 1032 {ECO:0000250}.
DISULFID 1035 1050 {ECO:0000250}.
DISULFID 1672 1709 {ECO:0000250}.
DISULFID 1862 1891 {ECO:0000250}.
DISULFID 3371 3444 {ECO:0000250}.
DISULFID 3399 3425 {ECO:0000250}.
VAR_SEQ 1544 1546 IKA -> KCV (in isoform 2).
{ECO:0000303|PubMed:9624053}.
/FTId=VSP_017771.
VAR_SEQ 1547 5202 Missing (in isoform 2).
{ECO:0000303|PubMed:9624053}.
/FTId=VSP_017772.
VAR_SEQ 5099 5099 M -> MFDSVADISDVSSNVTLKSYTMHFE (in
isoform 3). {ECO:0000305}.
/FTId=VSP_017773.
VARIANT 44 44 G -> R (in USH2A).
{ECO:0000269|PubMed:22004887}.
/FTId=VAR_071996.
VARIANT 125 125 A -> T (in dbSNP:rs10779261).
{ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:16098008,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:21686329}.
/FTId=VAR_025760.
VARIANT 163 163 C -> Y (in USH2A).
{ECO:0000269|PubMed:10909849,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025761.
VARIANT 180 180 S -> P (in USH2A).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_071997.
VARIANT 218 218 V -> E (in USH2A; dbSNP:rs397518026).
{ECO:0000269|PubMed:11311042,
ECO:0000269|PubMed:17405132}.
/FTId=VAR_025762.
VARIANT 230 230 V -> M (in USH2A; unknown pathological
significance; dbSNP:rs45500891).
{ECO:0000269|PubMed:10909849,
ECO:0000269|PubMed:11311042,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025763.
VARIANT 268 268 G -> R (in USH2A; unknown pathological
significance; dbSNP:rs111033280).
{ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_054557.
VARIANT 280 280 L -> F (in USH2A).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054558.
VARIANT 284 284 E -> K (in USH2A).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054559.
VARIANT 303 303 R -> C (in USH2A).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054560.
VARIANT 303 303 R -> S (in USH2A; dbSNP:rs748465849).
{ECO:0000269|PubMed:14970843}.
/FTId=VAR_054561.
VARIANT 307 307 S -> I (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054562.
VARIANT 319 319 C -> Y (in USH2A; dbSNP:rs121912599).
{ECO:0000269|PubMed:10729113}.
/FTId=VAR_025764.
VARIANT 334 334 R -> Q (in USH2A; dbSNP:rs758303489).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054563.
VARIANT 334 334 R -> W (in USH2A; dbSNP:rs397517963).
{ECO:0000269|PubMed:10738000,
ECO:0000269|PubMed:15025721,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:18452394,
ECO:0000269|PubMed:19683999}.
/FTId=VAR_025765.
VARIANT 346 346 N -> H (in USH2A; dbSNP:rs369522997).
{ECO:0000269|PubMed:10729113,
ECO:0000269|PubMed:15025721,
ECO:0000269|PubMed:15241801,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025766.
VARIANT 352 352 T -> I (in USH2A; dbSNP:rs780308389).
{ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_054564.
VARIANT 357 357 N -> T (in USH2A).
{ECO:0000269|PubMed:15025721}.
/FTId=VAR_054565.
VARIANT 365 365 L -> F. {ECO:0000269|PubMed:15325563}.
/FTId=VAR_054566.
VARIANT 382 382 V -> M (in USH2A; dbSNP:rs750651679).
{ECO:0000269|PubMed:22004887}.
/FTId=VAR_071998.
VARIANT 391 391 S -> I (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054567.
VARIANT 419 419 C -> F (in USH2A and RP39;
dbSNP:rs121912600).
{ECO:0000269|PubMed:10729113,
ECO:0000269|PubMed:15241801,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:22334370}.
/FTId=VAR_025767.
VARIANT 453 453 T -> I (found in a renal cell carcinoma
sample; somatic mutation).
{ECO:0000269|PubMed:21248752}.
/FTId=VAR_064761.
VARIANT 464 464 R -> C (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054568.
VARIANT 478 478 E -> D (in RP39 and USH2A; unknown
pathological significance;
dbSNP:rs35730265).
{ECO:0000269|PubMed:10738000,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:16098008,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025768.
VARIANT 479 479 F -> S. {ECO:0000269|PubMed:15025721,
ECO:0000269|PubMed:9624053}.
/FTId=VAR_054569.
VARIANT 516 516 G -> V (in USH2A; unknown pathological
significance).
/FTId=VAR_054570.
VARIANT 517 517 R -> T (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054571.
VARIANT 536 536 C -> R (in USH2A; abolishes interaction
with collagen IV; dbSNP:rs111033273).
{ECO:0000269|PubMed:10909849,
ECO:0000269|PubMed:15241801,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025769.
VARIANT 555 555 L -> V (in USH2A; dbSNP:rs35818432).
{ECO:0000269|PubMed:11311042,
ECO:0000269|PubMed:19683999}.
/FTId=VAR_025770.
VARIANT 575 575 C -> S (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054572.
VARIANT 587 587 Missing (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054573.
VARIANT 595 595 F -> S (in dbSNP:rs200496467).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054574.
VARIANT 610 610 H -> P (in USH2A).
{ECO:0000269|PubMed:12525556}.
/FTId=VAR_025771.
VARIANT 644 644 D -> V (in dbSNP:rs1805048).
{ECO:0000269|PubMed:10738000,
ECO:0000269|PubMed:15025721,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:16098008,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025772.
VARIANT 691 691 C -> Y (in USH2A).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_071999.
VARIANT 703 703 D -> E. {ECO:0000269|PubMed:16098008}.
/FTId=VAR_025773.
VARIANT 713 713 G -> R (in USH2A; abolishes interaction
with collagen IV; unknown pathological
significance; dbSNP:rs696723).
{ECO:0000269|PubMed:10909849,
ECO:0000269|PubMed:12112664,
ECO:0000269|PubMed:15241801,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898}.
/FTId=VAR_025774.
VARIANT 739 739 F -> L (in RP39; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054575.
VARIANT 759 759 C -> F (in RP39 and USH2A;
dbSNP:rs80338902).
{ECO:0000269|PubMed:10775529,
ECO:0000269|PubMed:12112664,
ECO:0000269|PubMed:12427073,
ECO:0000269|PubMed:14970843,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:16098008,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:22334370}.
/FTId=VAR_025775.
VARIANT 761 761 P -> R (in USH2A).
{ECO:0000269|PubMed:12525556}.
/FTId=VAR_025776.
VARIANT 841 841 S -> Y (in dbSNP:rs111033282).
{ECO:0000269|PubMed:16098008}.
/FTId=VAR_025777.
VARIANT 911 911 T -> N (in RP39; unknown pathological
significance; dbSNP:rs397518006).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054576.
VARIANT 934 934 C -> W (in RP39; dbSNP:rs201527662).
{ECO:0000269|PubMed:21686329}.
/FTId=VAR_072000.
VARIANT 1047 1047 L -> V (in dbSNP:rs727503735).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054577.
VARIANT 1059 1059 P -> L (in USH2A; unknown pathological
significance; dbSNP:rs547581739).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054578.
VARIANT 1212 1212 P -> L (in USH2A).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054579.
VARIANT 1349 1349 S -> P (in dbSNP:rs761656866).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054580.
VARIANT 1369 1369 Missing (in USH2A).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_072001.
VARIANT 1442 1442 F -> S (in RP39; dbSNP:rs766108245).
{ECO:0000269|PubMed:24227914}.
/FTId=VAR_072002.
VARIANT 1470 1470 L -> R (in RP39; unknown pathological
significance).
{ECO:0000269|PubMed:15325563}.
/FTId=VAR_054581.
VARIANT 1486 1486 R -> K (in dbSNP:rs1805049).
{ECO:0000269|PubMed:10729113,
ECO:0000269|PubMed:10738000,
ECO:0000269|PubMed:15325563,
ECO:0000269|PubMed:16098008,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:21686329,
ECO:0000269|PubMed:9624053}.
/FTId=VAR_025778.
VARIANT 1515 1515 T -> M (in USH2A; dbSNP:rs373599651).
{ECO:0000269|PubMed:10738000}.
/FTId=VAR_025779.
VARIANT 1572 1572 L -> F (in dbSNP:rs111033333).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054582.
VARIANT 1665 1665 I -> T (in dbSNP:rs56222536).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_038362.
VARIANT 1734 1734 G -> R (in USH2A).
{ECO:0000269|PubMed:20309401}.
/FTId=VAR_072003.
VARIANT 1757 1757 Y -> C. {ECO:0000269|PubMed:18273898}.
/FTId=VAR_054583.
VARIANT 1777 1777 R -> W (in USH2A; dbSNP:rs770329105).
{ECO:0000269|PubMed:21593743}.
/FTId=VAR_072004.
VARIANT 1833 1833 V -> E (in USH2A).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054584.
VARIANT 1836 1836 P -> T (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072005.
VARIANT 1840 1840 G -> V (in USH2A).
{ECO:0000269|PubMed:18452394}.
/FTId=VAR_072006.
VARIANT 1843 1843 P -> L (in USH2A; dbSNP:rs200209833).
{ECO:0000269|PubMed:23737954}.
/FTId=VAR_072007.
VARIANT 1859 1859 F -> C (in RP39).
{ECO:0000269|PubMed:22334370}.
/FTId=VAR_068354.
VARIANT 1861 1861 G -> S (in USH2A; dbSNP:rs375668376).
{ECO:0000269|PubMed:23737954}.
/FTId=VAR_072008.
VARIANT 1953 1953 A -> G (in USH2A; unknown pathological
significance; dbSNP:rs41302239).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072009.
VARIANT 1978 1978 P -> S (in RP39; unknown pathological
significance; dbSNP:rs75698489).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072010.
VARIANT 2080 2080 K -> N (in USH2A; unknown pathological
significance; dbSNP:rs114402911).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054585.
VARIANT 2086 2086 T -> N (in dbSNP:rs149202379).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054586.
VARIANT 2106 2106 I -> T (in dbSNP:rs6657250).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:21686329}.
/FTId=VAR_038363.
VARIANT 2116 2116 H -> R (in USH2A; unknown pathological
significance; dbSNP:rs111033450).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072011.
VARIANT 2128 2128 C -> F (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072012.
VARIANT 2128 2128 C -> Y (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072013.
VARIANT 2169 2169 I -> T (in dbSNP:rs10864219).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924,
ECO:0000269|PubMed:21686329}.
/FTId=VAR_038364.
VARIANT 2196 2196 S -> T (in USH2A; unknown pathological
significance; dbSNP:rs79444516).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072014.
VARIANT 2237 2237 D -> Y (in RP39; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072015.
VARIANT 2238 2238 E -> A (in USH2A; unknown pathological
significance; dbSNP:rs41277212).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054587.
VARIANT 2249 2249 A -> D (in USH2A).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054588.
VARIANT 2260 2260 S -> P (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072016.
VARIANT 2265 2266 EY -> D (in USH2A).
/FTId=VAR_054589.
VARIANT 2292 2292 R -> H (in USH2A; unknown pathological
significance; dbSNP:rs41277210).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054590.
VARIANT 2354 2354 R -> H (in USH2A; dbSNP:rs201386640).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054591.
VARIANT 2377 2377 N -> S (in dbSNP:rs111033394).
{ECO:0000269|PubMed:22004887}.
/FTId=VAR_072017.
VARIANT 2394 2394 N -> K. {ECO:0000269|PubMed:22004887}.
/FTId=VAR_072018.
VARIANT 2460 2460 R -> H (in RP39; dbSNP:rs368681648).
{ECO:0000269|PubMed:22334370}.
/FTId=VAR_068355.
VARIANT 2562 2562 V -> A (in USH2A; unknown pathological
significance; dbSNP:rs56385601).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054592.
VARIANT 2573 2573 R -> H (in RP39; unknown pathological
significance; dbSNP:rs189748047).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072019.
VARIANT 2639 2639 S -> P (in USH2A; unknown pathological
significance; dbSNP:rs398124620).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072020.
VARIANT 2738 2738 D -> N (in USH2A; dbSNP:rs750687826).
{ECO:0000269|PubMed:23737954}.
/FTId=VAR_072021.
VARIANT 2744 2744 W -> C (in USH2A).
{ECO:0000269|PubMed:21686329}.
/FTId=VAR_072022.
VARIANT 2752 2752 G -> R (in USH2A; dbSNP:rs201863550).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_072023.
VARIANT 2786 2786 F -> S (in USH2A; unknown pathological
significance; dbSNP:rs111033262).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072024.
VARIANT 2795 2795 A -> S (in USH2A).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054593.
VARIANT 2820 2820 V -> I (in dbSNP:rs59174500).
/FTId=VAR_061350.
VARIANT 2875 2875 R -> Q (in dbSNP:rs12118814).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_038365.
VARIANT 2886 2886 L -> F (in dbSNP:rs41277200).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284}.
/FTId=VAR_054594.
VARIANT 2930 2930 N -> K (in RP39; unknown pathological
significance; dbSNP:rs754774098).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072025.
VARIANT 3088 3088 E -> K (in dbSNP:rs56056328).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054595.
VARIANT 3099 3099 N -> S (in dbSNP:rs41277194).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_038366.
VARIANT 3115 3115 T -> A (in dbSNP:rs56032526).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284}.
/FTId=VAR_054596.
VARIANT 3124 3124 R -> G (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054597.
VARIANT 3144 3144 D -> N (in dbSNP:rs11120645).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17296898,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_038367.
VARIANT 3199 3199 N -> D (in dbSNP:rs4129843).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284}.
/FTId=VAR_034064.
VARIANT 3251 3251 C -> R (in USH2A; dbSNP:rs527236118).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054598.
VARIANT 3263 3269 Missing (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072026.
VARIANT 3267 3267 C -> R (in USH2A; dbSNP:rs111033263).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054599.
VARIANT 3282 3282 C -> R (in USH2A).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054600.
VARIANT 3335 3335 I -> M. {ECO:0000269|PubMed:17296898}.
/FTId=VAR_038368.
VARIANT 3358 3358 C -> Y (in RP39; unknown pathological
significance; dbSNP:rs148660051).
{ECO:0000269|PubMed:20507924,
ECO:0000269|PubMed:22334370}.
/FTId=VAR_068356.
VARIANT 3384 3384 S -> Y (in RP39; unknown pathological
significance; dbSNP:rs553202000).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072027.
VARIANT 3411 3411 E -> A (in dbSNP:rs10864198).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924,
ECO:0000269|PubMed:21686329}.
/FTId=VAR_050087.
VARIANT 3448 3448 E -> K (in USH2A; unknown pathological
significance; dbSNP:rs368049814).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072028.
VARIANT 3462 3462 T -> I (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072029.
VARIANT 3472 3472 Y -> YY (in USH2A).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054601.
VARIANT 3479 3479 W -> C (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072030.
VARIANT 3504 3504 P -> T (in USH2A).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054602.
VARIANT 3515 3515 D -> G (in USH2A; dbSNP:rs527236119).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_072031.
VARIANT 3521 3521 W -> R (in USH2A; dbSNP:rs111033264).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054603.
VARIANT 3529 3529 G -> S (in USH2A; unknown pathological
significance; dbSNP:rs111033439).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072032.
VARIANT 3546 3546 G -> R (in USH2A).
{ECO:0000269|PubMed:22004887}.
/FTId=VAR_072033.
VARIANT 3571 3571 T -> M (in USH2A; dbSNP:rs202175091).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:19737284}.
/FTId=VAR_054604.
VARIANT 3590 3590 P -> L (in dbSNP:rs115403785).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054605.
VARIANT 3606 3606 L -> P (in RP39; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072034.
VARIANT 3618 3618 G -> S (in RP39; unknown pathological
significance; dbSNP:rs778158900).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072035.
VARIANT 3669 3669 S -> R (in RP39).
{ECO:0000269|PubMed:22334370}.
/FTId=VAR_068357.
VARIANT 3719 3719 R -> H (in RP39; unknown pathological
significance; dbSNP:rs527236139).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072036.
VARIANT 3747 3747 Y -> C (in USH2A).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_072037.
VARIANT 3835 3835 T -> I (in dbSNP:rs11120616).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:22004887}.
/FTId=VAR_050088.
VARIANT 3844 3844 I -> M (in USH2A; unknown pathological
significance; dbSNP:rs765306173).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072038.
VARIANT 3868 3868 M -> V (in dbSNP:rs35309576).
{ECO:0000269|PubMed:17085681,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054606.
VARIANT 3893 3893 P -> T (in dbSNP:rs41303285).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054607.
VARIANT 3894 3894 N -> D (in USH2A).
{ECO:0000269|PubMed:22004887}.
/FTId=VAR_072039.
VARIANT 3895 3895 G -> E (in USH2A).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054608.
VARIANT 3904 3904 R -> K (in USH2A; unknown pathological
significance; dbSNP:rs182741276).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072040.
VARIANT 3976 3976 T -> M (in USH2A; dbSNP:rs142381713).
{ECO:0000269|PubMed:17405132}.
/FTId=VAR_054609.
VARIANT 4054 4054 S -> I (in USH2A).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054610.
VARIANT 4094 4094 N -> K (in RP39; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072041.
VARIANT 4115 4115 R -> C (in USH2A and RP39; associated
with M-4425; dbSNP:rs111033275).
{ECO:0000269|PubMed:15015129,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:22334370}.
/FTId=VAR_025780.
VARIANT 4174 4174 S -> R (in USH2A; unknown pathological
significance; dbSNP:rs754560357).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072042.
VARIANT 4192 4192 R -> H (in RP39; unknown pathological
significance; dbSNP:rs199605265).
{ECO:0000269|PubMed:20507924,
ECO:0000269|PubMed:22334370}.
/FTId=VAR_068358.
VARIANT 4203 4203 Q -> R (in dbSNP:rs148556640).
{ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:21835308}.
/FTId=VAR_066665.
VARIANT 4232 4232 P -> R (in USH2A; dbSNP:rs745371873).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054611.
VARIANT 4248 4248 H -> N (in RP39; unknown pathological
significance; dbSNP:rs372137776).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072043.
VARIANT 4269 4269 P -> R (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072044.
VARIANT 4337 4337 T -> M (in USH2A; dbSNP:rs527236137).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054612.
VARIANT 4386 4386 I -> F (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:26377068}.
/FTId=VAR_075587.
VARIANT 4425 4425 T -> M (in USH2A and RP39; associated
with C-4115; dbSNP:rs201238640).
{ECO:0000269|PubMed:15015129,
ECO:0000269|PubMed:17405132,
ECO:0000269|PubMed:22334370}.
/FTId=VAR_025781.
VARIANT 4433 4433 V -> L (in USH2A; unknown pathological
significance; dbSNP:rs111033381).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_054613.
VARIANT 4439 4439 T -> I (in USH2A; dbSNP:rs753330544).
{ECO:0000269|PubMed:18273898,
ECO:0000269|PubMed:20440071}.
/FTId=VAR_054614.
VARIANT 4445 4449 ENMDS -> DL (in USH2A; unknown
pathological significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072045.
VARIANT 4447 4447 M -> V (in RP39; unknown pathological
significance; dbSNP:rs139474806).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072046.
VARIANT 4487 4487 Y -> C (in USH2A; dbSNP:rs768893227).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054615.
VARIANT 4493 4493 R -> H (in dbSNP:rs138879998).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_072047.
VARIANT 4570 4570 R -> H (in USH2A; unknown pathological
significance; dbSNP:rs730254).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072048.
VARIANT 4592 4592 Q -> H (in USH2A).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054616.
VARIANT 4611 4611 A -> V (in dbSNP:rs376077079).
{ECO:0000269|PubMed:19737284}.
/FTId=VAR_072049.
VARIANT 4616 4616 G -> V (in dbSNP:rs527236124).
{ECO:0000269|PubMed:21593743}.
/FTId=VAR_072050.
VARIANT 4624 4624 F -> V. {ECO:0000269|PubMed:18273898}.
/FTId=VAR_054617.
VARIANT 4662 4662 Q -> E (in USH2A; unknown pathological
significance; dbSNP:rs41302237).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072051.
VARIANT 4674 4674 R -> G (in RP39; dbSNP:rs80338904).
{ECO:0000269|PubMed:17296898}.
/FTId=VAR_038369.
VARIANT 4692 4692 G -> R (in USH2A; unknown pathological
significance; dbSNP:rs45549044).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_061351.
VARIANT 4739 4739 R -> K (in dbSNP:rs12085354).
/FTId=VAR_050089.
VARIANT 4763 4763 G -> R (in USH2A; unknown pathological
significance; dbSNP:rs397517990).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072052.
VARIANT 4778 4778 A -> D (in USH2A; unknown pathological
significance; dbSNP:rs113447586).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072053.
VARIANT 4795 4795 L -> R (in USH2A; dbSNP:rs199851839).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054618.
VARIANT 4808 4808 C -> R (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072054.
VARIANT 4817 4817 G -> R (in USH2A; unknown pathological
significance).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072055.
VARIANT 4818 4818 P -> L (in USH2A; dbSNP:rs143344549).
{ECO:0000269|PubMed:17085681}.
/FTId=VAR_054619.
VARIANT 4838 4838 G -> E (in dbSNP:rs41315587).
{ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_061352.
VARIANT 4840 4840 L -> P (in RP39; unknown pathological
significance; dbSNP:rs143275144).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072056.
VARIANT 4844 4844 T -> M (in RP39; unknown pathological
significance; dbSNP:rs200570742).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072057.
VARIANT 4848 4848 R -> Q (in dbSNP:rs77211159).
{ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_072058.
VARIANT 4881 4881 S -> T (in dbSNP:rs200949691).
{ECO:0000269|PubMed:21593743}.
/FTId=VAR_072059.
VARIANT 4918 4918 T -> M (in USH2A; unknown pathological
significance; dbSNP:rs56136489).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072060.
VARIANT 4921 4921 E -> K (in dbSNP:rs754834155).
{ECO:0000269|PubMed:22004887}.
/FTId=VAR_072061.
VARIANT 5026 5026 K -> E (in dbSNP:rs41308435).
{ECO:0000269|PubMed:19737284,
ECO:0000269|PubMed:20507924}.
/FTId=VAR_072062.
VARIANT 5031 5031 R -> W (in dbSNP:rs56038610).
{ECO:0000269|PubMed:18273898}.
/FTId=VAR_054620.
VARIANT 5063 5063 L -> R (in RP39).
{ECO:0000269|PubMed:24227914}.
/FTId=VAR_072063.
VARIANT 5143 5143 R -> C (in USH2A; dbSNP:rs145771342).
{ECO:0000269|PubMed:23737954}.
/FTId=VAR_072064.
VARIANT 5143 5143 R -> H (in RP39; unknown pathological
significance; dbSNP:rs111033435).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072065.
VARIANT 5145 5145 V -> I (in RP39; unknown pathological
significance; dbSNP:rs111033269).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072066.
VARIANT 5188 5188 S -> G (in RP39; unknown pathological
significance; dbSNP:rs58257972).
{ECO:0000269|PubMed:20507924}.
/FTId=VAR_072067.
CONFLICT 237 237 F -> C (in Ref. 1; AAC23748 and 2;
AAF75819). {ECO:0000305}.
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


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