|  | 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_028241 | Polymorphism | p.CYS170TYR | N/A | | Swiss-Prot | VAR_028242 | Polymorphism | p.GLN250ARG | N/A | | Swiss-Prot | VAR_028240 | Polymorphism | p.GLY135GLU | N/A | | Swiss-Prot | VAR_013291 | Polymorphism | p.LEU311VAL | N/A | | Swiss-Prot | VAR_013290 | Polymorphism | p.SER145CYS | N/A |
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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308153631
AK1C4_HUMAN RecName: Full=Aldo-keto reductase family 1 member C4; AltName: Full=3-alpha-HSD1; AltName: Full=3-alpha-hydroxysteroid dehydrogenase type I; AltName: Full=Chlordecone reductase; Short=CDR; AltName: Full=Dihydrodiol dehydrogenase 4; Short=DD-4; Short=DD4; AltName: Full=HAKRA
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