Known Diseases associated with this Protein: |  WISKOTT-ALDRICH SYNDROME 2
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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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| WH2 | smart00246 | 9.9e-05 | 32 | 49 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_010295 | Polymorphism | p.ALA495GLY | N/A | | dbSNP | rs4972450 | Polymorphism | p.PRO198LEU | N/A | | OMIM | 602357.0001 | Disease | p.SER434TER | WISKOTT-ALDRICH SYNDROME 2 |
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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313104260
WIPF1_HUMAN RecName: Full=WAS/WASL-interacting protein family member 1; AltName: Full=Protein PRPL-2; AltName: Full=Wiskott-Aldrich syndrome protein-interacting protein; Short=WASP-interacting protein
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