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Known Diseases associated with this Protein: |  PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
| PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY (PDHBD)
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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_004967 | Polymorphism | p.LEU31VAL | N/A | | Swiss-Prot | VAR_021058 | Disease | p.PRO344SER | Pyruvate dehydrogenase E1-beta deficiency (PDHBD) | | Swiss-Prot | VAR_030954 | Disease | p.TYR132CYS | Pyruvate dehydrogenase E1-beta deficiency (PDHBD) | | OMIM | 179060.0002 | Disease | p.PRO344SER | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY | | OMIM | 179060.0001 | Disease | p.TYR132CYS | PYRUVATE DEHYDROGENASE E1-BETA 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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134044259
ODPB_HUMAN RecName: Full=Pyruvate dehydrogenase E1 component subunit beta, mitochondrial; Short=PDHE1-B; Flags: Precursor
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