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Known Diseases associated with this Protein: | XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C (XP-C)
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2228000 | Polymorphism | p.ALA499VAL | N/A | Swiss-Prot | VAR_018897 | Polymorphism | p.ARG314GLN | N/A | dbSNP | rs2227999 | Polymorphism | p.ARG492HIS | N/A | Swiss-Prot | VAR_018902 | Polymorphism | p.ARG671HIS | N/A | dbSNP | rs2227998 | Polymorphism | p.ARG687SER | N/A | Swiss-Prot | VAR_057476 | Polymorphism | p.CYS514SER | N/A | Swiss-Prot | VAR_018901 | Polymorphism | p.GLN632GLU | N/A | dbSNP | rs2228001 | Polymorphism | p.GLN939LYS | N/A | Swiss-Prot | VAR_018895 | Polymorphism | p.LEU48PHE | N/A | dbSNP | rs1870134 | Polymorphism | p.LEU16VAL | N/A | Swiss-Prot | VAR_018896 | Polymorphism | p.LYS86ARG | N/A | Swiss-Prot | VAR_059963 | Polymorphism | p.LYS511GLN | N/A | Swiss-Prot | VAR_018904 | Polymorphism | p.LYS928GLN | N/A | Swiss-Prot | VAR_018900 | Polymorphism | p.MET513ILE | N/A | Swiss-Prot | VAR_057475 | Polymorphism | p.PHE287CYS | N/A | Swiss-Prot | VAR_005846 | Disease | p.PRO334HIS | Xeroderma pigmentosum complementation group C (XP-C) | Swiss-Prot | VAR_018903 | Polymorphism | p.THR689MET | N/A | Swiss-Prot | VAR_064039 | Disease | p.TRP690SER | Xeroderma pigmentosum complementation group C (XP-C) | OMIM | 613208.0007 | Disease | p.ARG579TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | OMIM | 613208.0001 | Disease | p.PRO218HIS | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
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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