Known Diseases associated with this Protein: |  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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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_060682 | Polymorphism | p.THR104ALA | N/A | | OMIM | 614530.0001 | Disease | p.ARG60TER | 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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12229870
NDUAC_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; AltName: Full=13 kDa differentiation-associated protein; AltName: Full=Complex I-B17.2; Short=CI-B17.2; Short=CIB17.2; AltName: Full=NADH-ubiquinone oxidoreductase subunit B17.2
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