Known Diseases associated with this Protein: |  SVEINSSON CHOREORETINAL ATROPHY
| SVEINSSON CHORIORETINAL ATROPHY (SCRA)
|
|  | 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_031530 | Disease | p.TYR421HIS | Sveinsson chorioretinal atrophy (SCRA) | | OMIM | 189967.0001 | Disease | p.TYR421HIS | SVEINSSON CHOREORETINAL ATROPHY |
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 |
|
3041733
TEAD1_HUMAN RecName: Full=Transcriptional enhancer factor TEF-1; AltName: Full=NTEF-1; AltName: Full=Protein GT-IIC; AltName: Full=TEA domain family member 1; Short=TEAD-1; AltName: Full=Transcription factor 13; Short=TCF-13
2
0
1
0
1
