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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_025511 | Polymorphism | p.ARG241GLN | N/A | dbSNP | rs1801318 | Polymorphism | p.ARG417SER | N/A | Swiss-Prot | VAR_019532 | Disease | p.ARG241TRP | Mitochondrial complex I deficiency (MT-C1D) | Swiss-Prot | VAR_019533 | Disease | p.ASP252GLY | Mitochondrial complex I deficiency (MT-C1D) | Swiss-Prot | VAR_069506 | Polymorphism | p.VAL253GLY | N/A | Swiss-Prot | VAR_018463 | Polymorphism | p.VAL649PHE | N/A | OMIM | 157655.0008 | Disease | p.ARG394CYS | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 157655.0007 | Disease | p.ARG543TER | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 157655.0003 | Disease | p.ARG227TRP | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 157655.0006 | Disease | p.ASP605ASN | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 157655.0002 | Disease | p.ASP238GLY | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 157655.0004 | Disease | p.LEU217VAL | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 157655.0005 | Disease | p.THR581ALA | 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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