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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_043499 | Disease | p.ALA114VAL | 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) | | Swiss-Prot | VAR_043498 | Disease | p.ARG83CYS | Rokitansky-Kuster-Hauser syndrome (RKH syndrome) | | Swiss-Prot | VAR_034703 | Disease | p.GLU216GLY | Rokitansky-Kuster-Hauser syndrome (RKH syndrome) | | Swiss-Prot | VAR_043497 | Disease | p.LEU12PRO | Rokitansky-Kuster-Hauser syndrome (RKH syndrome) | | Swiss-Prot | VAR_052955 | Polymorphism | p.PRO277LEU | N/A | | OMIM | 603490.0002 | Disease | p.ALA114VAL | SERKAL SYNDROME | | OMIM | 603490.0003 | Disease | p.ARG83CYS | MULLERIAN APLASIA AND HYPERANDROGENISM | | OMIM | 603490.0001 | Disease | p.GLU226GLY | MULLERIAN APLASIA AND HYPERANDROGENISM | | OMIM | 603490.0004 | Disease | p.LEU12PRO | MULLERIAN APLASIA AND HYPERANDROGENISM |
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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WNT4_HUMAN RecName: Full=Protein Wnt-4; Flags: Precursor
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