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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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dbSNP | rs1057868 | Polymorphism | p.ALA503VAL | N/A | OMIM | 124015.0009 | Disease | p.ALA284PRO | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY | OMIM | 124015.0002 | Disease | p.ALA287PRO | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | OMIM | 124015.0005 | Disease | p.ARG457HIS | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHRO | OMIM | 124015.0008 | Disease | p.CYS566TYR | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY | OMIM | 124015.0003 | Disease | p.CYS569TYR | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY | OMIM | 124015.0016 | Disease | p.GLY539ARG | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHRO | OMIM | 124015.0007 | Disease | p.TYR178ASP | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY | OMIM | 124015.0012 | Disease | p.TYR578CYS | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | OMIM | 124015.0001 | Disease | p.VAL492GLU | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | OMIM | 124015.0004 | Disease | p.VAL608PHE | DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE 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
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