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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs72973763 | Polymorphism | p.ILE239VAL | N/A | | dbSNP | rs12021720 | Polymorphism | p.SER384GLY | N/A | | OMIM | 248610.0008 | Disease | p.GLY323SER | MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II | | OMIM | 248610.0011 | Disease | p.HIS391ARG | MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II | | OMIM | 248610.0007 | Disease | p.ILE37MET | MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II | | OMIM | 248610.0002 | Disease | p.PHE215CYS | MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II | | OMIM | 248610.0012 | Disease | p.SER133TER | MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE II | | OMIM | 248610.0006 | Disease | p.TER422LEU | MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II |
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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392494079
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor [Homo sapiens]
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