Known Diseases associated with this Protein: |  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
| JUVENILE MYOCLONIC EPILEPSY 5 (EJM5)
|
|  | 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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_013642 | Disease | p.ALA322ASP | Juvenile myoclonic epilepsy 5 (EJM5) | | OMIM | 137160.0001 | Disease | p.ALA322ASP | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 |
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 |
|
27808653
GBRA1_HUMAN RecName: Full=Gamma-aminobutyric acid receptor subunit alpha-1; AltName: Full=GABA(A) receptor subunit alpha-1; Flags: Precursor
2
0
1
0
1
