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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_019596 | Disease | p.ARG217TRP | Leigh syndrome (LS) | | Swiss-Prot | VAR_033117 | Disease | p.SER344PRO | Leigh syndrome (LS) | | OMIM | 603646.0001 | Disease | p.ARG217TRP | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 2||LEIGH SYNDROME DUE TO MITOCHONDRIAL | | OMIM | 603646.0004 | Disease | p.SER344PRO | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY | | OMIM | 603646.0003 | Disease | p.SER151TER | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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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51315906
COX15_HUMAN RecName: Full=Cytochrome c oxidase assembly protein COX15 homolog
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