Results for the protein: Q9H251

Results for the Protein: Q9H251

408359994

64072

CDH23

NCBI, UniProt

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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Default View: CA - smart00112	Swiss-Prot Protein: Q9H251 Identical to: NP_071407 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA	smart00112	2.5e-20	157	234
CA	smart00112	3e-12	261	346
CA	smart00112	1.3e-11	376	458
CA	smart00112	4.5e-23	485	559
CA	smart00112	1.7e-25	586	669
CA	smart00112	7.1e-24	696	776
CA	smart00112	3.7e-14	803	888
CA	smart00112	8.3e-27	915	993
CA	smart00112	1.7e-24	1020	1100
CA	smart00112	1.8e-21	1127	1206
CA	smart00112	1.9e-20	1234	1311
CA	smart00112	9e-18	1338	1416
CA	smart00112	3.8e-28	1444	1525
CA	smart00112	6.6e-26	1553	1632
CA	smart00112	2.8e-23	1660	1742
CA	smart00112	2.7e-27	1769	1849
CA	smart00112	4.6e-21	1876	1957
CA	smart00112	8.1e-15	1988	2067
CA	smart00112	6.1e-26	2094	2172
CA	smart00112	5.7e-05	2199	2291
CA	smart00112	3.7e-21	2321	2400
CA	smart00112	5.8e-25	2427	2507
CA	smart00112	8e-24	2534	2609
CA	smart00112	8.7e-24	2638	2720
CA	smart00112	4.3e-11	2754	2844

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046436	Polymorphism	p.ALA2853GLN	N/A
Swiss-Prot	VAR_027328	Disease	p.ALA1586PRO	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027321	Disease	p.ALA484PRO	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_012170	Polymorphism	p.ALA1222THR	N/A
Swiss-Prot	VAR_012175	Polymorphism	p.ALA1575THR	N/A
Swiss-Prot	VAR_024030	Disease	p.ALA366THR	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_012172	Polymorphism	p.ARG1349CYS	N/A
Swiss-Prot	VAR_046427	Polymorphism	p.ARG2171CYS	N/A
Swiss-Prot	VAR_012188	Disease	p.ARG2956CYS	Deafness, autosomal recessive, 12 (DFNB12)
dbSNP	rs7902757	Polymorphism	p.ARG3CYS	N/A
Swiss-Prot	VAR_046438	Polymorphism	p.ARG3175CYS	N/A
Swiss-Prot	VAR_046412	Polymorphism	p.ARG1236GLN	N/A
dbSNP	rs56181447	Polymorphism	p.ARG1437GLN	N/A
Swiss-Prot	VAR_024032	Disease	p.ARG1507GLN	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_012178	Disease	p.ARG1746GLN	Usher syndrome 1D (USH1D)
dbSNP	rs3802711	Polymorphism	p.ARG1804GLN	N/A
Swiss-Prot	VAR_027335	Polymorphism	p.ARG2066GLN	N/A
dbSNP	rs4747194	Polymorphism	p.ARG2358GLN	N/A
Swiss-Prot	VAR_046405	Disease	p.ARG301GLN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027322	Disease	p.ARG582GLN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027343	Disease	p.ARG2833GLY	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046431	Polymorphism	p.ARG2489HIS	N/A
Swiss-Prot	VAR_027341	Disease	p.ARG2608HIS	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027347	Disease	p.ARG3175HIS	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_027323	Disease	p.ARG1060TRP	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046414	Polymorphism	p.ARG1417TRP	N/A
Swiss-Prot	VAR_046423	Disease	p.ARG1912TRP	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046425	Disease	p.ARG2029TRP	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027339	Disease	p.ARG2465TRP	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_024033	Disease	p.ARG3189TRP	Usher syndrome 1D (USH1D)
dbSNP	rs1227065	Polymorphism	p.ASN1351ASP	N/A
Swiss-Prot	VAR_046411	Disease	p.ASN1098SER	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046413	Polymorphism	p.ASN1282SER	N/A
Swiss-Prot	VAR_027346	Polymorphism	p.ASN2962SER	N/A
Swiss-Prot	VAR_027319	Disease	p.ASN452SER	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027326	Disease	p.ASP1341ASN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027331	Disease	p.ASP1846ASN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046424	Disease	p.ASP1930ASN	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_012182	Disease	p.ASP2045ASN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027336	Disease	p.ASP2148ASN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_012183	Disease	p.ASP2202ASN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027338	Polymorphism	p.ASP2376ASN	N/A
Swiss-Prot	VAR_027345	Polymorphism	p.ASP2954ASN	N/A
Swiss-Prot	VAR_012169	Disease	p.ASP990ASN	Deafness, autosomal recessive, 12 (DFNB12)
dbSNP	rs74145660	Polymorphism	p.ASP1806GLU	N/A
Swiss-Prot	VAR_027317	Disease	p.ASP124GLY	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046429	Disease	p.ASP2376VAL	Usher syndrome 1D (USH1D)
dbSNP	rs61732490	Polymorphism	p.GLN58ARG	N/A
Swiss-Prot	VAR_012174	Disease	p.GLN1496HIS	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046418	Disease	p.GLN1716PRO	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046428	Polymorphism	p.GLN2227PRO	N/A
Swiss-Prot	VAR_012186	Polymorphism	p.GLU2588GLN	N/A
Swiss-Prot	VAR_027329	Disease	p.GLU1595LYS	Deafness, autosomal recessive, 12 (DFNB12)
dbSNP	rs10466026	Polymorphism	p.GLU2044LYS	N/A
Swiss-Prot	VAR_027318	Disease	p.GLU247LYS	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046409	Polymorphism	p.GLU960LYS	N/A
dbSNP	rs1227049	Polymorphism	p.GLY490ALA	N/A
Swiss-Prot	VAR_027324	Disease	p.GLY1186ASP	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_027334	Disease	p.GLY2017SER	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_027342	Disease	p.GLY2744SER	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046434	Disease	p.GLY2771SER	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046407	Disease	p.HIS755TYR	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_012187	Disease	p.ILE2950ASN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046415	Polymorphism	p.ILE1520MET	N/A
Swiss-Prot	VAR_046426	Polymorphism	p.ILE2125MET	N/A
Swiss-Prot	VAR_046433	Polymorphism	p.ILE2669VAL	N/A
Swiss-Prot	VAR_027320	Disease	p.LEU480GLN	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046430	Polymorphism	p.LEU2473PRO	N/A
Swiss-Prot	VAR_046416	Polymorphism	p.MET1574THR	N/A
dbSNP	rs45583140	Polymorphism	p.PHE3125LEU	N/A
Swiss-Prot	VAR_027333	Disease	p.PHE1888SER	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046435	Polymorphism	p.PHE2801VAL	N/A
Swiss-Prot	VAR_027325	Disease	p.PRO1206ARG	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046419	Disease	p.PRO1788LEU	Usher syndrome 1D (USH1D)
dbSNP	rs4747195	Polymorphism	p.PRO2380LEU	N/A
Swiss-Prot	VAR_046404	Disease	p.PRO240LEU	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_012189	Disease	p.PRO3059THR	Deafness, autosomal recessive, 12 (DFNB12)
Swiss-Prot	VAR_046421	Polymorphism	p.SER1876ASN	N/A
dbSNP	rs10999947	Polymorphism	p.SER496ASN	N/A
Swiss-Prot	VAR_027340	Disease	p.SER2517GLY	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_046408	Polymorphism	p.SER944GLY	N/A
Swiss-Prot	VAR_024034	Disease	p.SER3245PHE	Usher syndrome 1D (USH1D)
dbSNP	rs41281314	Disease	p.THR1209ALA	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_027332	Polymorphism	p.THR1887ILE	N/A
Swiss-Prot	VAR_046432	Disease	p.THR2530ILE	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_012176	Polymorphism	p.THR1671SER	N/A
dbSNP	rs11592462	Polymorphism	p.THR1999SER	N/A
Swiss-Prot	VAR_046437	Disease	p.VAL2968ALA	Usher syndrome 1D (USH1D)
Swiss-Prot	VAR_027344	Polymorphism	p.VAL2933GLU	N/A
Swiss-Prot	VAR_046410	Disease	p.VAL1090ILE	Usher syndrome 1D (USH1D)
dbSNP	rs17712523	Polymorphism	p.VAL1675ILE	N/A
Swiss-Prot	VAR_046417	Polymorphism	p.VAL1711ILE	N/A
Swiss-Prot	VAR_046422	Polymorphism	p.VAL1908ILE	N/A
Swiss-Prot	VAR_027337	Polymorphism	p.VAL2283ILE	N/A
Swiss-Prot	VAR_046406	Polymorphism	p.VAL746ILE	N/A
Swiss-Prot	VAR_027330	Polymorphism	p.VAL1620MET	N/A
Swiss-Prot	VAR_046420	Polymorphism	p.VAL1807MET	N/A
OMIM	605516.0002	Disease	p.ARG1746GLN	USHER SYNDROME, TYPE ID
OMIM	605516.0015	Disease	p.ARG301GLN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0012	Disease	p.ARG3189TRP	USHER SYNDROME, TYPE ID/F, DIGENIC
OMIM	605516.0005	Disease	p.ASP1243ASN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0009	Disease	p.ASP1341ASN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0006	Disease	p.ASP1400ASN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0008	Disease	p.ASP2148ASN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0001	Disease	p.GLN1496HIS	USHER SYNDROME, TYPE ID
OMIM	605516.0007	Disease	p.GLN492TER	USHER SYNDROME, TYPE ID
OMIM	605516.0010	Disease	p.PHE1888SER	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0014	Disease	p.PRO240LEU	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0013	Disease	p.THR1209ALA	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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