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Known Diseases associated with this Protein: | XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A (XP-A)
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_014799 | Polymorphism | p.ARG228GLN | N/A | Swiss-Prot | VAR_007729 | Disease | p.ARG130LYS | Xeroderma pigmentosum complementation group A (XP-A) | Swiss-Prot | VAR_007728 | Disease | p.CYS108PHE | Xeroderma pigmentosum complementation group A (XP-A) | Swiss-Prot | VAR_007730 | Disease | p.GLN185HIS | Xeroderma pigmentosum complementation group A (XP-A) | Swiss-Prot | VAR_007731 | Disease | p.HIS244ARG | Xeroderma pigmentosum complementation group A (XP-A) | Swiss-Prot | VAR_020324 | Polymorphism | p.LEU252VAL | N/A | Swiss-Prot | VAR_061987 | Polymorphism | p.MET256VAL | N/A | Swiss-Prot | VAR_007727 | Disease | p.PRO94LEU | Xeroderma pigmentosum complementation group A (XP-A) | Swiss-Prot | VAR_037907 | Polymorphism | p.VAL97ILE | N/A | Swiss-Prot | VAR_029325 | Polymorphism | p.VAL234LEU | N/A | OMIM | 611153.0005 | Disease | p.ARG207TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | OMIM | 611153.0004 | Disease | p.ARG228TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | OMIM | 611153.0002 | Disease | p.CYS108PHE | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | OMIM | 611153.0006 | Disease | p.TYR116TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
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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