|
|
|
|
Known Diseases associated with this Protein: | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (COXPD10)
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_068693 | Disease | p.ALA453THR | Combined oxidative phosphorylation deficiency 10 (COXPD10) | dbSNP | rs2036039 | Polymorphism | p.LEU419MET | N/A | OMIM | 614667.0003 | Disease | p.ARG462HIS | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 | OMIM | 614667.0004 | Disease | p.THR436ILE | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 |
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 |
|