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Known Diseases associated with this Protein: |  GLUTARIC ACIDEMIA IIC
| GLUTARIC ACIDEMIA IIC, LATE-ONSET
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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_055711 | Polymorphism | p.HIS94ARG | N/A | | dbSNP | rs11559290 | Polymorphism | p.THR31ILE | N/A | | Swiss-Prot | VAR_036134 | Polymorphism | p.VAL565LEU | N/A | | OMIM | 231675.0003 | Disease | p.ALA84THR | GLUTARIC ACIDEMIA IIC | | OMIM | 231675.0006 | Disease | p.ARG175HIS | GLUTARIC ACIDEMIA IIC | | OMIM | 231675.0004 | Disease | p.ARG175LEU | GLUTARIC ACIDEMIA IIC | | OMIM | 231675.0005 | Disease | p.LEU127HIS | GLUTARIC ACIDEMIA IIC | | OMIM | 231675.0007 | Disease | p.LEU377PRO | GLUTARIC ACIDEMIA IIC, LATE-ONSET | | OMIM | 231675.0001 | Disease | p.MET1THR | GLUTARIC ACIDEMIA IIC | | OMIM | 231675.0008 | Disease | p.PRO483LEU | GLUTARIC ACIDEMIA IIC, LATE-ONSET |
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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292495008
ETFD_HUMAN RecName: Full=Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; Short=ETF-QO; Short=ETF-ubiquinone oxidoreductase; AltName: Full=Electron-transferring-flavoprotein dehydrogenase; Short=ETF dehydrogenase; Flags: Precursor
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