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Known Diseases associated with this Protein: |  3-@HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY
| HIBCH DEFICIENCY (HIBCHD)
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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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| dbSNP | rs74832989 | Polymorphism | p.CYS163SER | N/A | | dbSNP | rs61752508 | Polymorphism | p.GLU245ASP | N/A | | dbSNP | rs291466 | Polymorphism | p.MET1THR | N/A | | dbSNP | rs1058180 | Polymorphism | p.THR46ALA | N/A | | Swiss-Prot | VAR_031870 | Disease | p.TYR122CYS | HIBCH deficiency (HIBCHD) | | OMIM | 610690.0002 | Disease | p.TYR122CYS | 3-@HYDROXYISOBUTYRYL-CoA HYDROLASE 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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146324905
HIBCH_HUMAN RecName: Full=3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; AltName: Full=3-hydroxyisobutyryl-coenzyme A hydrolase; Short=HIB-CoA hydrolase; Short=HIBYL-CoA-H; Flags: Precursor
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