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Known Diseases associated with this Protein: |  MICROPENIS
| PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS
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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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| OMIM | 607306.0009 | Disease | p.ALA228THR | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0016 | Disease | p.ARG227GLN | MICROPENIS | | OMIM | 607306.0007 | Disease | p.ARG227TER | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0002 | Disease | p.ARG246TRP | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0014 | Disease | p.GLU197ASP | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0005 | Disease | p.GLY115ASP | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0006 | Disease | p.GLY183SER | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0010 | Disease | p.GLY196SER | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0011 | Disease | p.HIS231ARG | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0004 | Disease | p.LEU55GLN | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0013 | Disease | p.PRO212ARG | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | | OMIM | 607306.0015 | Disease | p.TYR26TER | MICROPENIS |
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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39812447
3-oxo-5-alpha-steroid 4-dehydrogenase 2 [Homo sapiens]
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