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Known Diseases associated with this Protein: |  ISOVALERIC ACIDEMIA (IVA)
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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_070061 | Disease | p.ALA94GLY | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015962 | Disease | p.ALA311VAL | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015965 | Disease | p.ARG392CYS | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015966 | Disease | p.ARG411LEU | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015960 | Disease | p.ARG50PRO | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015961 | Disease | p.ASP69ASN | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015963 | Disease | p.CYS357ARG | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_070062 | Disease | p.GLY120ARG | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_000424 | Disease | p.GLY199VAL | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_070063 | Disease | p.ILE196MET | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_070064 | Disease | p.LEU276PRO | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_000423 | Disease | p.LEU42PRO | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_070065 | Disease | p.TYR400CYS | Isovaleric acidemia (IVA) | | Swiss-Prot | VAR_015964 | Disease | p.VAL371ALA | Isovaleric acidemia (IVA) |
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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125051
IVD_HUMAN RecName: Full=Isovaleryl-CoA dehydrogenase, mitochondrial; Short=IVD; Flags: Precursor
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