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Known Diseases associated with this Protein: |  OROFACIODIGITAL SYNDROME 5 (OFD5)
| OROFACIODIGITAL SYNDROME V
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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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| Swiss-Prot | VAR_070199 | Disease | p.GLY534ARG | Orofaciodigital syndrome 5 (OFD5) | | dbSNP | rs3795634 | Polymorphism | p.ILE107VAL | N/A | | Swiss-Prot | VAR_035842 | Polymorphism | p.PRO77THR | N/A | | Swiss-Prot | VAR_033001 | Polymorphism | p.SER472ARG | N/A | | Swiss-Prot | VAR_070198 | Disease | p.VAL367GLY | Orofaciodigital syndrome 5 (OFD5) | | OMIM | 615464.0002 | Disease | p.GLY534ARG | OROFACIODIGITAL SYNDROME V | | OMIM | 615464.0001 | Disease | p.VAL367GLY | OROFACIODIGITAL SYNDROME V |
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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74762230
DDX59_HUMAN RecName: Full=Probable ATP-dependent RNA helicase DDX59; AltName: Full=DEAD box protein 59; AltName: Full=Zinc finger HIT domain-containing protein 5
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