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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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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_008846 | Disease | p.ALA341VAL | Mitochondrial complex I deficiency (MT-C1D) | | Swiss-Prot | VAR_014481 | Polymorphism | p.ASN277TYR | N/A | | Swiss-Prot | VAR_019534 | Disease | p.GLU214LYS | Mitochondrial complex I deficiency (MT-C1D) | | Swiss-Prot | VAR_014480 | Polymorphism | p.ILE76VAL | N/A | | Swiss-Prot | VAR_008847 | Disease | p.THR423MET | Leigh syndrome (LS) | | OMIM | 161015.0003 | Disease | p.ALA341VAL | MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 161015.0004 | Disease | p.GLU214LYS | MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 161015.0001 | Disease | p.THR423MET | 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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20455501
NDUV1_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; AltName: Full=Complex I-51kD; Short=CI-51kD; AltName: Full=NADH dehydrogenase flavoprotein 1; AltName: Full=NADH-ubiquinone oxidoreductase 51 kDa subunit; Flags: Precursor
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