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Known Diseases associated with this Protein: |  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (COXPD11)
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|  | 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. |
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 Default View:
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069036 | Disease | p.ARG417GLN | Combined oxidative phosphorylation deficiency 11 (COXPD11) | | dbSNP | rs6934360 | Polymorphism | p.ARG47HIS | N/A | | dbSNP | rs35188477 | Polymorphism | p.GLU286ASP | N/A | | dbSNP | rs11550103 | Polymorphism | p.SER42ILE | N/A | | dbSNP | rs3734800 | Polymorphism | p.THR132MET | N/A | | OMIM | 614917.0002 | Disease | p.ARG417GLN | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 |
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 |
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91208248
RMND1_HUMAN RecName: Full=Required for meiotic nuclear division protein 1 homolog; Flags: Precursor
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