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Known Diseases associated with this Protein: |  HMG-COA SYNTHASE DEFICIENCY (HMGCS DEFICIENCY)
| MITOCHONDRIAL HMG-COA SYNTHASE DEFICIENCY
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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_032760 | Disease | p.ARG500HIS | HMG-CoA synthase deficiency (HMGCS deficiency) | | Swiss-Prot | VAR_032759 | Disease | p.GLY212ARG | HMG-CoA synthase deficiency (HMGCS deficiency) | | Swiss-Prot | VAR_032711 | Disease | p.PHE174LEU | HMG-CoA synthase deficiency (HMGCS deficiency) | | Swiss-Prot | VAR_032758 | Disease | p.TYR167CYS | HMG-CoA synthase deficiency (HMGCS deficiency) | | Swiss-Prot | VAR_032757 | Disease | p.VAL54MET | HMG-CoA synthase deficiency (HMGCS deficiency) | | OMIM | 600234.0004 | Disease | p.ARG500HIS | MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | | OMIM | 600234.0002 | Disease | p.ARG424TER | MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | | OMIM | 600234.0003 | Disease | p.GLY212ARG | MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | | OMIM | 600234.0001 | Disease | p.PHE174LEU | MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | | OMIM | 600234.0006 | Disease | p.TYR167CYS | MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | | OMIM | 600234.0005 | Disease | p.VAL54MET | MITOCHONDRIAL HMG-CoA SYNTHASE 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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1708234
HMCS2_HUMAN RecName: Full=Hydroxymethylglutaryl-CoA synthase, mitochondrial; Short=HMG-CoA synthase; AltName: Full=3-hydroxy-3-methylglutaryl coenzyme A synthase; Flags: Precursor
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