|
|
|---|
 |
|
Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 29
| DEAFNESS, AUTOSOMAL RECESSIVE, 29 (DFNB29)
|
|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
|---|
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_069982 | Disease | p.ALA94VAL | Deafness, autosomal recessive, 29 (DFNB29) | | Swiss-Prot | VAR_069979 | Disease | p.ARG81HIS | Deafness, autosomal recessive, 29 (DFNB29) | | Swiss-Prot | VAR_069983 | Disease | p.GLY232ARG | Deafness, autosomal recessive, 29 (DFNB29) | | Swiss-Prot | VAR_069980 | Polymorphism | p.ILE86VAL | N/A | | Swiss-Prot | VAR_069981 | Disease | p.SER87ILE | Deafness, autosomal recessive, 29 (DFNB29) | | Swiss-Prot | VAR_017227 | Polymorphism | p.THR4MET | N/A | | Swiss-Prot | VAR_010738 | Disease | p.VAL85ASP | Deafness, autosomal recessive, 29 (DFNB29) | | OMIM | 605608.0003 | Disease | p.GLY101ARG | DEAFNESS, AUTOSOMAL RECESSIVE 29 | | OMIM | 605608.0002 | Disease | p.VAL85ASP | DEAFNESS, AUTOSOMAL RECESSIVE 29 |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|
6685304
CLD14_HUMAN RecName: Full=Claudin-14
7
2
2
0
7
