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Known Diseases associated with this Protein: | XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2227870 | Polymorphism | p.ALA627GLU | N/A | dbSNP | rs17655 | Polymorphism | p.ASP1104HIS | N/A | dbSNP | rs2227869 | Polymorphism | p.CYS529SER | N/A | dbSNP | rs4150313 | Polymorphism | p.GLN256ARG | N/A | dbSNP | rs4150388 | Polymorphism | p.GLY1080GLU | N/A | dbSNP | rs1047769 | Polymorphism | p.MET254VAL | N/A | dbSNP | rs4987063 | Polymorphism | p.VAL145ILE | N/A | OMIM | 133530.0014 | Disease | p.ALA28ASP | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | OMIM | 133530.0012 | Disease | p.ALA874THR | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | OMIM | 133530.0002 | Disease | p.ALA792VAL | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | OMIM | 133530.0005 | Disease | p.ARG263TER | XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME | OMIM | 133530.0013 | Disease | p.GLN136TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | OMIM | 133530.0006 | Disease | p.GLN176TER | XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME | OMIM | 133530.0001 | Disease | p.GLU960TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | OMIM | 133530.0008 | Disease | p.LEU858PRO | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | OMIM | 133530.0007 | Disease | p.PRO72HIS | XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME | OMIM | 133530.0015 | Disease | p.TRP968CYS | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
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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