|
|
|---|
 |
|
|  | 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_065157 | Disease | p.GLY85ALA | Mitochondrial DNA depletion syndrome 9 (MTDPS9) | | Swiss-Prot | VAR_065120 | Disease | p.MET14LEU | Mitochondrial DNA depletion syndrome 9 (MTDPS9) | | Swiss-Prot | VAR_065121 | Disease | p.PRO170ARG | Mitochondrial DNA depletion syndrome 9 (MTDPS9) | | OMIM | 611224.0005 | Disease | p.GLN150TER | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH||METHYLMALONIC ACIDURIA) | | OMIM | 611224.0002 | Disease | p.GLY72ALA | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH||METHYLMALONIC ACIDURIA) | | OMIM | 611224.0003 | Disease | p.PRO170ARG | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH||METHYLMALONIC ACIDURIA) |
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 |
|
223634731
SUCA_HUMAN RecName: Full=Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; AltName: Full=Succinyl-CoA synthetase subunit alpha; Short=SCS-alpha; Flags: Precursor
6
0
3
0
3
