|
|
|---|
 |
|
Known Diseases associated with this Protein: |  PULMONARY HYPERTENSION, PRIMARY, 2
| PULMONARY HYPERTENSION, PRIMARY, 2 (PPH2)
|
|  | 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 | 6e-106 | 272 | 443 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_066871 | Disease | p.LYS43GLU | Pulmonary hypertension, primary, 2 (PPH2) | | OMIM | 603295.0003 | Disease | p.ARG294TER | PULMONARY HYPERTENSION, PRIMARY, 2 | | OMIM | 603295.0001 | Disease | p.CYS202TER | PULMONARY HYPERTENSION, PRIMARY, 2 | | OMIM | 603295.0002 | Disease | p.LYS43GLU | PULMONARY HYPERTENSION, PRIMARY, 2 |
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 |
|
13959539
SMAD9_HUMAN RecName: Full=Mothers against decapentaplegic homolog 9; Short=MAD homolog 9; Short=Mothers against DPP homolog 9; AltName: Full=Madh6; AltName: Full=SMAD family member 9; Short=SMAD 9; Short=Smad9
4
0
3
0
1
