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_034149 | Polymorphism | p.ALA2GLY | N/A | | dbSNP | rs35715497 | Polymorphism | p.ASN65SER | N/A | | OMIM | 603835.0002 | Disease | p.GLN142ARG | 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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6093592
NDUAA_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial; AltName: Full=Complex I-42kD; Short=CI-42kD; AltName: Full=NADH-ubiquinone oxidoreductase 42 kDa subunit; Flags: Precursor
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