Known Diseases associated with this Protein: |  PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
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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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| OMIM | 605993.0002 | Disease | p.GLU68TER | PYRUVATE DEHYDROGENASE PHOSPHATASE 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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78099789
PDP1_HUMAN RecName: Full=[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; Short=PDP 1; AltName: Full=Protein phosphatase 2C; AltName: Full=Pyruvate dehydrogenase phosphatase catalytic subunit 1; Short=PDPC 1; Flags: Precursor
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