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Known Diseases associated with this Protein: |  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
| MITOCHONDRIAL COMPLEX I DEFICIENCY (MT-C1D)
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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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| dbSNP | rs1142530 | Polymorphism | p.PRO23LEU | N/A | | Swiss-Prot | VAR_008848 | Disease | p.VAL122MET | Mitochondrial complex I deficiency (MT-C1D) | | OMIM | 601825.0002 | Disease | p.ARG145HIS | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 601825.0001 | Disease | p.VAL122MET | 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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90110040
NDUS7_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; AltName: Full=Complex I-20kD; Short=CI-20kD; AltName: Full=NADH-ubiquinone oxidoreductase 20 kDa subunit; AltName: Full=PSST subunit; Flags: Precursor
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