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Known Diseases associated with this Protein: |  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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| Swiss-Prot | VAR_027895 | Polymorphism | p.ASN198THR | N/A | | Swiss-Prot | VAR_069767 | Disease | p.ASP105TYR | Mitochondrial complex I deficiency (MT-C1D) | | Swiss-Prot | VAR_064570 | Polymorphism | p.GLY56ARG | N/A | | Swiss-Prot | VAR_069768 | Disease | p.LEU193PHE | Mitochondrial complex I deficiency (MT-C1D) | | OMIM | 613621.0004 | Disease | p.ASP105TYR | MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 613621.0001 | Disease | p.GLY56ARG | MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 613621.0006 | Disease | p.LEU193PHE | 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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116242683
NUBPL_HUMAN RecName: Full=Iron-sulfur protein NUBPL; AltName: Full=IND1 homolog; AltName: Full=Nucleotide-binding protein-like; AltName: Full=huInd1; Flags: Precursor
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