Results for the protein: NP

Results for the Protein: NP_001165401

284925128

64072

CDH23

NCBI

cadherin-23 isoform 3 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 12
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  USHER SYNDROME, TYPE ID

6

6

6

6

0

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Default View: CA_like - cd00031 Cadherin - pfam00028 CA - smart00112	RefSeq Protein: NP_001165401 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	4.1e-31	240	452
CA_like	cd00031	9.7e-61	464	663
CA_like	cd00031	1.3e-48	675	882
CA_like	cd00031	1.1e-58	894	1094
CA_like	cd00031	3.1e-57	1106	1305
Cadherin	pfam00028	7.6e-09	38	121
Cadherin	pfam00028	2.1e-24	137	227
Cadherin	pfam00028	2.1e-11	241	337
Cadherin	pfam00028	8.5e-06	353	451
Cadherin	pfam00028	4.5e-24	465	552
Cadherin	pfam00028	6.5e-21	566	662
Cadherin	pfam00028	5.4e-16	676	769
Cadherin	pfam00028	3.4e-11	783	879
Cadherin	pfam00028	1.2e-24	895	986
Cadherin	pfam00028	1.9e-18	1000	1091
Cadherin	pfam00028	4.4e-22	1107	1199
Cadherin	pfam00028	9.4e-18	1214	1304
CA	smart00112	3e-13	58	130
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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7902757	Polymorphism	p.ARG3CYS	N/A
dbSNP	rs1227065	Polymorphism	p.ASN1351ASP	N/A
dbSNP	rs61732490	Polymorphism	p.GLN58ARG	N/A
dbSNP	rs1227049	Polymorphism	p.GLY490ALA	N/A
dbSNP	rs10999947	Polymorphism	p.SER496ASN	N/A
dbSNP	rs41281314	Polymorphism	p.THR1209ALA	N/A
OMIM	605516.0015	Disease	p.ARG301GLN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0005	Disease	p.ASP1243ASN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0009	Disease	p.ASP1341ASN	DEAFNESS, AUTOSOMAL RECESSIVE 12
OMIM	605516.0007	Disease	p.GLN492TER	USHER SYNDROME, TYPE ID
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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