|
|
|---|
 |
|
|  | 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_069303 | Disease | p.SER125LEU | Combined oxidative phosphorylation deficiency 15 (COXPD15) | | Swiss-Prot | VAR_069304 | Disease | p.SER209LEU | Combined oxidative phosphorylation deficiency 15 (COXPD15) | | dbSNP | rs2946655 | Polymorphism | p.VAL5ALA | N/A | | OMIM | 611766.0002 | Disease | p.ARG128TER | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 | | OMIM | 611766.0004 | Disease | p.ARG332TER | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 611766.0003 | Disease | p.SER125LEU | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 | | OMIM | 611766.0001 | Disease | p.SER209LEU | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED |
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 |
|
27923776
FMT_HUMAN RecName: Full=Methionyl-tRNA formyltransferase, mitochondrial; Short=MtFMT; Flags: Precursor
6
1
4
1
2
