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Known Diseases associated with this Protein: |  WARSAW BREAKAGE SYNDROME
| WARSAW BREAKAGE SYNDROME (WBRS)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs145461857 | Polymorphism | p.ALA607PRO | N/A | | Swiss-Prot | VAR_069099 | Disease | p.ARG263GLN | Warsaw breakage syndrome (WBRS) | | dbSNP | rs1046457 | Polymorphism | p.ARG856HIS | N/A | | Swiss-Prot | VAR_052176 | Polymorphism | p.CYS864ARG | N/A | | dbSNP | rs1046458 | Polymorphism | p.CYS951ARG | N/A | | Swiss-Prot | VAR_024809 | Polymorphism | p.GLN567GLU | N/A | | Swiss-Prot | VAR_024808 | Polymorphism | p.ILE39SER | N/A | | dbSNP | rs201612562 | Polymorphism | p.PRO368SER | N/A | | Swiss-Prot | VAR_024810 | Polymorphism | p.THR575MET | N/A | | Swiss-Prot | VAR_052178 | Polymorphism | p.TRP966CYS | N/A | | OMIM | 601150.0003 | Disease | p.ARG263GLN | WARSAW BREAKAGE SYNDROME |
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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74731686
DDX11_HUMAN RecName: Full=Probable ATP-dependent RNA helicase DDX11; AltName: Full=CHL1-related protein 1; Short=hCHLR1; AltName: Full=DEAD/H box protein 11; AltName: Full=Keratinocyte growth factor-regulated gene 2 protein; Short=KRG-2
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