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Results for the Protein: Q9H251
408359994

CAD23_HUMAN RecName: Full=Cadherin-23; AltName: Full=Otocadherin; Flags: Precursor

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 12
  DEAFNESS, AUTOSOMAL RECESSIVE, 12 (DFNB12)
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  USHER SYNDROME 1D (USH1D)
  USHER SYNDROME, TYPE ID
  USHER SYNDROME, TYPE ID/F, DIGENIC
61
48
12
15
82
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CA - smart00112


Swiss-Prot Protein: Q9H251
Identical to: NP_071407
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CAsmart001123e-1358130
CAsmart001122.5e-20157234
CAsmart001123e-12261346
CAsmart001121.3e-11376458
CAsmart001124.5e-23485559
CAsmart001121.7e-25586669
CAsmart001127.1e-24696776
CAsmart001123.7e-14803888
CAsmart001128.3e-27915993
CAsmart001121.7e-2410201100
CAsmart001121.8e-2111271206
CAsmart001121.9e-2012341311
CAsmart001129e-1813381416
CAsmart001123.8e-2814441525
CAsmart001126.6e-2615531632
CAsmart001122.8e-2316601742
CAsmart001122.7e-2717691849
CAsmart001124.6e-2118761957
CAsmart001128.1e-1519882067
CAsmart001126.1e-2620942172
CAsmart001125.7e-0521992291
CAsmart001123.7e-2123212400
CAsmart001125.8e-2524272507
CAsmart001128e-2425342609
CAsmart001128.7e-2426382720
CAsmart001124.3e-1127542844

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046436Polymorphismp.ALA2853GLNN/A
Swiss-ProtVAR_027328Diseasep.ALA1586PRODeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027321Diseasep.ALA484PROUsher syndrome 1D (USH1D)
Swiss-ProtVAR_012170Polymorphismp.ALA1222THRN/A
Swiss-ProtVAR_012175Polymorphismp.ALA1575THRN/A
Swiss-ProtVAR_024030Diseasep.ALA366THRUsher syndrome 1D (USH1D)
Swiss-ProtVAR_012172Polymorphismp.ARG1349CYSN/A
Swiss-ProtVAR_046427Polymorphismp.ARG2171CYSN/A
Swiss-ProtVAR_012188Diseasep.ARG2956CYSDeafness, autosomal recessive, 12 (DFNB12)
dbSNPrs7902757 Polymorphismp.ARG3CYSN/A
Swiss-ProtVAR_046438Polymorphismp.ARG3175CYSN/A
Swiss-ProtVAR_046412Polymorphismp.ARG1236GLNN/A
dbSNPrs56181447 Polymorphismp.ARG1437GLNN/A
Swiss-ProtVAR_024032Diseasep.ARG1507GLNUsher syndrome 1D (USH1D)
Swiss-ProtVAR_012178Diseasep.ARG1746GLNUsher syndrome 1D (USH1D)
dbSNPrs3802711 Polymorphismp.ARG1804GLNN/A
Swiss-ProtVAR_027335Polymorphismp.ARG2066GLNN/A
dbSNPrs4747194 Polymorphismp.ARG2358GLNN/A
Swiss-ProtVAR_046405Diseasep.ARG301GLNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027322Diseasep.ARG582GLNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027343Diseasep.ARG2833GLYUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046431Polymorphismp.ARG2489HISN/A
Swiss-ProtVAR_027341Diseasep.ARG2608HISDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027347Diseasep.ARG3175HISUsher syndrome 1D (USH1D)
Swiss-ProtVAR_027323Diseasep.ARG1060TRPDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046414Polymorphismp.ARG1417TRPN/A
Swiss-ProtVAR_046423Diseasep.ARG1912TRPUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046425Diseasep.ARG2029TRPDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027339Diseasep.ARG2465TRPDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_024033Diseasep.ARG3189TRPUsher syndrome 1D (USH1D)
dbSNPrs1227065 Polymorphismp.ASN1351ASPN/A
Swiss-ProtVAR_046411Diseasep.ASN1098SERUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046413Polymorphismp.ASN1282SERN/A
Swiss-ProtVAR_027346Polymorphismp.ASN2962SERN/A
Swiss-ProtVAR_027319Diseasep.ASN452SERDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027326Diseasep.ASP1341ASNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027331Diseasep.ASP1846ASNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046424Diseasep.ASP1930ASNUsher syndrome 1D (USH1D)
Swiss-ProtVAR_012182Diseasep.ASP2045ASNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027336Diseasep.ASP2148ASNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_012183Diseasep.ASP2202ASNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027338Polymorphismp.ASP2376ASNN/A
Swiss-ProtVAR_027345Polymorphismp.ASP2954ASNN/A
Swiss-ProtVAR_012169Diseasep.ASP990ASNDeafness, autosomal recessive, 12 (DFNB12)
dbSNPrs74145660 Polymorphismp.ASP1806GLUN/A
Swiss-ProtVAR_027317Diseasep.ASP124GLYDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046429Diseasep.ASP2376VALUsher syndrome 1D (USH1D)
dbSNPrs61732490 Polymorphismp.GLN58ARGN/A
Swiss-ProtVAR_012174Diseasep.GLN1496HISUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046418Diseasep.GLN1716PRODeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046428Polymorphismp.GLN2227PRON/A
Swiss-ProtVAR_012186Polymorphismp.GLU2588GLNN/A
Swiss-ProtVAR_027329Diseasep.GLU1595LYSDeafness, autosomal recessive, 12 (DFNB12)
dbSNPrs10466026 Polymorphismp.GLU2044LYSN/A
Swiss-ProtVAR_027318Diseasep.GLU247LYSUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046409Polymorphismp.GLU960LYSN/A
dbSNPrs1227049 Polymorphismp.GLY490ALAN/A
Swiss-ProtVAR_027324Diseasep.GLY1186ASPDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_027334Diseasep.GLY2017SERUsher syndrome 1D (USH1D)
Swiss-ProtVAR_027342Diseasep.GLY2744SERUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046434Diseasep.GLY2771SERUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046407Diseasep.HIS755TYRUsher syndrome 1D (USH1D)
Swiss-ProtVAR_012187Diseasep.ILE2950ASNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046415Polymorphismp.ILE1520METN/A
Swiss-ProtVAR_046426Polymorphismp.ILE2125METN/A
Swiss-ProtVAR_046433Polymorphismp.ILE2669VALN/A
Swiss-ProtVAR_027320Diseasep.LEU480GLNDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046430Polymorphismp.LEU2473PRON/A
Swiss-ProtVAR_046416Polymorphismp.MET1574THRN/A
dbSNPrs45583140 Polymorphismp.PHE3125LEUN/A
Swiss-ProtVAR_027333Diseasep.PHE1888SERDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046435Polymorphismp.PHE2801VALN/A
Swiss-ProtVAR_027325Diseasep.PRO1206ARGUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046419Diseasep.PRO1788LEUUsher syndrome 1D (USH1D)
dbSNPrs4747195 Polymorphismp.PRO2380LEUN/A
Swiss-ProtVAR_046404Diseasep.PRO240LEUDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_012189Diseasep.PRO3059THRDeafness, autosomal recessive, 12 (DFNB12)
Swiss-ProtVAR_046421Polymorphismp.SER1876ASNN/A
dbSNPrs10999947 Polymorphismp.SER496ASNN/A
Swiss-ProtVAR_027340Diseasep.SER2517GLYUsher syndrome 1D (USH1D)
Swiss-ProtVAR_046408Polymorphismp.SER944GLYN/A
Swiss-ProtVAR_024034Diseasep.SER3245PHEUsher syndrome 1D (USH1D)
dbSNPrs41281314 Diseasep.THR1209ALAUsher syndrome 1D (USH1D)
Swiss-ProtVAR_027332Polymorphismp.THR1887ILEN/A
Swiss-ProtVAR_046432Diseasep.THR2530ILEUsher syndrome 1D (USH1D)
Swiss-ProtVAR_012176Polymorphismp.THR1671SERN/A
dbSNPrs11592462 Polymorphismp.THR1999SERN/A
Swiss-ProtVAR_046437Diseasep.VAL2968ALAUsher syndrome 1D (USH1D)
Swiss-ProtVAR_027344Polymorphismp.VAL2933GLUN/A
Swiss-ProtVAR_046410Diseasep.VAL1090ILEUsher syndrome 1D (USH1D)
dbSNPrs17712523 Polymorphismp.VAL1675ILEN/A
Swiss-ProtVAR_046417Polymorphismp.VAL1711ILEN/A
Swiss-ProtVAR_046422Polymorphismp.VAL1908ILEN/A
Swiss-ProtVAR_027337Polymorphismp.VAL2283ILEN/A
Swiss-ProtVAR_046406Polymorphismp.VAL746ILEN/A
Swiss-ProtVAR_027330Polymorphismp.VAL1620METN/A
Swiss-ProtVAR_046420Polymorphismp.VAL1807METN/A
OMIM605516.0002 Diseasep.ARG1746GLNUSHER SYNDROME, TYPE ID
OMIM605516.0015 Diseasep.ARG301GLNDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0012 Diseasep.ARG3189TRPUSHER SYNDROME, TYPE ID/F, DIGENIC
OMIM605516.0005 Diseasep.ASP1243ASNDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0009 Diseasep.ASP1341ASNDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0006 Diseasep.ASP1400ASNDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0008 Diseasep.ASP2148ASNDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0001 Diseasep.GLN1496HISUSHER SYNDROME, TYPE ID
OMIM605516.0007 Diseasep.GLN492TERUSHER SYNDROME, TYPE ID
OMIM605516.0010 Diseasep.PHE1888SERDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0014 Diseasep.PRO240LEUDEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM605516.0013 Diseasep.THR1209ALARECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE



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