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Known Diseases associated with this Protein: |  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
| CONGENITAL BILE ACID SYNTHESIS DEFECT 2 (CBAS2)
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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_044431 | Disease | p.ARG261CYS | Congenital bile acid synthesis defect 2 (CBAS2) | | Swiss-Prot | VAR_033007 | Disease | p.LEU106PHE | Congenital bile acid synthesis defect 2 (CBAS2) | | Swiss-Prot | VAR_044430 | Disease | p.PRO133ARG | Congenital bile acid synthesis defect 2 (CBAS2) | | Swiss-Prot | VAR_033008 | Disease | p.PRO198LEU | Congenital bile acid synthesis defect 2 (CBAS2) | | OMIM | 604741.0005 | Disease | p.ARG261CYS | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 | | OMIM | 604741.0003 | Disease | p.LEU106PHE | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 | | OMIM | 604741.0004 | Disease | p.PRO133ARG | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 | | OMIM | 604741.0001 | Disease | p.PRO198LEU | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 |
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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1703007
AK1D1_HUMAN RecName: Full=3-oxo-5-beta-steroid 4-dehydrogenase; AltName: Full=Aldo-keto reductase family 1 member D1; AltName: Full=Delta(4)-3-ketosteroid 5-beta-reductase; AltName: Full=Delta(4)-3-oxosteroid 5-beta-reductase
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