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Known Diseases associated with this Protein: |  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
| MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED
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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_012036 | Polymorphism | p.PRO249GLN | N/A | | OMIM | 603846.0002 | Disease | p.ARG199TRP | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED | | OMIM | 603846.0001 | Disease | p.THR145ILE | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I 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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6166589
NDUS3_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; AltName: Full=Complex I-30kD; Short=CI-30kD; AltName: Full=NADH-ubiquinone oxidoreductase 30 kDa subunit; Flags: Precursor
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