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Known Diseases associated with this Protein: | MITOCHONDRIAL COMPLEX I DEFICIENCY
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs12900702 | Polymorphism | p.ALA314GLY | N/A | dbSNP | rs1899 | Polymorphism | p.ARG9HIS | N/A | dbSNP | rs3204853 | Polymorphism | p.ARG31LEU | N/A | Swiss-Prot | VAR_013561 | Polymorphism | p.GLU176LYS | N/A | dbSNP | rs34979001 | Polymorphism | p.ILE186MET | N/A | OMIM | 606934.0003 | Disease | p.ARG211CYS | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 606934.0004 | Disease | p.GLY245ARG | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 606934.0002 | Disease | p.LYS253ARG | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 606934.0001 | Disease | p.THR207PRO | 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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