Known Diseases associated with this Protein: |  VARIANT OF UNKNOWN SIGNIFICANCE
|
|  | 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 ↕ |
|---|
| DWB | smart00524 | 6.4e-107 | 270 | 441 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_066869 | Polymorphism | p.VAL3ALA | N/A | | OMIM | 601595.0001 | Disease | p.VAL3ALA | 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|
13633915
SMAD1_HUMAN RecName: Full=Mothers against decapentaplegic homolog 1; Short=MAD homolog 1; Short=Mothers against DPP homolog 1; AltName: Full=JV4-1; AltName: Full=Mad-related protein 1; AltName: Full=SMAD family member 1; Short=SMAD 1; Short=Smad1; Short=hSMAD1; AltName: Full=Transforming growth factor-beta-signaling protein 1; Short=BSP-1
1
1
1
0
1
