|
|
|---|
 |
|
|  | 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_027349 | Polymorphism | p.ALA141SER | N/A | | Swiss-Prot | VAR_046135 | Polymorphism | p.ARG404TRP | N/A | | Swiss-Prot | VAR_027350 | Disease | p.GLY399SER | Parkinson disease 13 (PARK13) | | Swiss-Prot | VAR_046134 | Polymorphism | p.LEU72PRO | N/A | | OMIM | 606441.0002 | Disease | p.ALA141SER | PARKINSON DISEASE 13, SUSCEPTIBILITY TO | | OMIM | 606441.0001 | Disease | p.GLY399SER | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT | | OMIM | 606441.0003 | Disease | p.PRO143ALA | PARKINSON DISEASE 13, SUSCEPTIBILITY TO |
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 |
|
17376879
HTRA2_HUMAN RecName: Full=Serine protease HTRA2, mitochondrial; AltName: Full=High temperature requirement protein A2; Short=HtrA2; AltName: Full=Omi stress-regulated endoprotease; AltName: Full=Serine protease 25; AltName: Full=Serine proteinase OMI; Flags: Precursor
4
3
3
0
4
