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Known Diseases associated with this Protein: | ANTLEY-BIXLER SYNDROME, WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (ABS1)
| DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (DISPORD)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_021155 | Disease | p.ALA284PRO | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) | Swiss-Prot | VAR_004617 | Polymorphism | p.ALA500VAL | N/A | Swiss-Prot | VAR_004618 | Polymorphism | p.ARG551GLN | N/A | Swiss-Prot | VAR_021156 | Disease | p.ARG454HIS | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) | Swiss-Prot | VAR_047886 | Polymorphism | p.ASP252ASN | N/A | Swiss-Prot | VAR_021158 | Disease | p.CYS566TYR | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) | Swiss-Prot | VAR_047885 | Polymorphism | p.PRO225LEU | N/A | Swiss-Prot | VAR_021154 | Disease | p.TYR178ASP | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) | Swiss-Prot | VAR_021159 | Disease | p.TYR575CYS | Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) | Swiss-Prot | VAR_021157 | Disease | p.VAL489GLU | Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) | Swiss-Prot | VAR_021160 | Disease | p.VAL605PHE | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) |
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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