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Known Diseases associated with this Protein: |  PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
| PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY (PDHLD)
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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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| Swiss-Prot | VAR_067839 | Disease | p.ARG249HIS | Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) | | OMIM | 607031.0001 | Disease | p.ARG249HIS | PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE 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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206729917
LIAS_HUMAN RecName: Full=Lipoyl synthase, mitochondrial; AltName: Full=Lipoate synthase; Short=LS; Short=Lip-syn; AltName: Full=Lipoic acid synthase; Flags: Precursor
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