|
|
|---|
 |
|
Known Diseases associated with this Protein: |  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
|
|  | 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 ↕ |
|---|
| Sec1 | pfam00995 | 7.2e-207 | 28 | 582 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| OMIM | 602926.0005 | Disease | p.ARG388TER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | | OMIM | 602926.0002 | Disease | p.CYS180TYR | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | | OMIM | 602926.0001 | Disease | p.GLY544ASP | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | | OMIM | 602926.0003 | Disease | p.MET443ARG | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | | OMIM | 602926.0004 | Disease | p.VAL84ASP | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 |
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 |
|
4507297
syntaxin-binding protein 1 isoform a [Homo sapiens]
5
0
5
0
0
