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Known Diseases associated with this Protein: |  3-@METHYLGLUTACONIC ACIDURIA, TYPE I
| 3-METHYLGLUTACONIC ACIDURIA 1 (MGA1)
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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_016911 | Disease | p.ALA240VAL | 3-methylglutaconic aciduria 1 (MGA1) | | OMIM | 600529.0001 | Disease | p.ARG197TER | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | | OMIM | 600529.0007 | Disease | p.GLY217ASP | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | | OMIM | 600529.0006 | Disease | p.GLY187SER | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | | OMIM | 600529.0008 | Disease | p.LYS331TER | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I |
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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37076898
AUHM_HUMAN RecName: Full=Methylglutaconyl-CoA hydratase, mitochondrial; AltName: Full=AU-specific RNA-binding enoyl-CoA hydratase; Short=AU-binding protein/enoyl-CoA hydratase; Flags: Precursor
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