Known Diseases associated with this Protein: |  MITOCHONDRIAL COMPLEX I DEFICIENCY
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs10195 | Polymorphism | p.PRO146ALA | N/A | | Swiss-Prot | VAR_014484 | Polymorphism | p.PRO146SER | N/A | | OMIM | 601445.0001 | Disease | p.LEU64PRO | 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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8134589
NDUB9_HUMAN RecName: Full=NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; AltName: Full=Complex I-B22; Short=CI-B22; AltName: Full=LYR motif-containing protein 3; AltName: Full=NADH-ubiquinone oxidoreductase B22 subunit
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