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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_015988 | Disease | p.ARG130CYS | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) | | Swiss-Prot | VAR_032093 | Disease | p.ASN247SER | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) | | Swiss-Prot | VAR_015987 | Disease | p.LEU122VAL | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) | | OMIM | 300256.0004 | Disease | p.ARG192ARG | MENTAL RETARDATION, X-LINKED, SYNDROMIC 10 | | OMIM | 300256.0001 | Disease | p.ARG130CYS | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY | | OMIM | 300256.0003 | Disease | p.ASN247SER | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY | | OMIM | 300256.0005 | Disease | p.GLU249GLN | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY | | OMIM | 300256.0002 | Disease | p.LEU122VAL | 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X 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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2492759
HCD2_HUMAN RecName: Full=3-hydroxyacyl-CoA dehydrogenase type-2; AltName: Full=17-beta-hydroxysteroid dehydrogenase 10; Short=17-beta-HSD 10; AltName: Full=3-hydroxy-2-methylbutyryl-CoA dehydrogenase; AltName: Full=3-hydroxyacyl-CoA dehydrogenase type II; AltName: Full=Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; AltName: Full=Mitochondrial ribonuclease P protein 2; Short=Mitochondrial RNase P protein 2; AltName: Full=Short-chain type dehydrogenase/reductase XH98G2; AltName: Full=Type II HADH
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