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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 | rs4151648 | Polymorphism | p.ARG734CYS | N/A | Swiss-Prot | VAR_008544 | Disease | p.CYS131TYR | Complement component 2 deficiency (C2D) | dbSNP | rs9332739 | Polymorphism | p.GLU318ASP | N/A | Swiss-Prot | VAR_008546 | Disease | p.GLY464ARG | Complement component 2 deficiency (C2D) | Swiss-Prot | VAR_011772 | Polymorphism | p.PHE533LEU | N/A | Swiss-Prot | VAR_008545 | Disease | p.SER209PHE | Complement component 2 deficiency (C2D) | OMIM | 613927.0004 | Disease | p.GLU318ASP | MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF | OMIM | 613927.0003 | Disease | p.GLY444ARG | C2 DEFICIENCY, TYPE II | OMIM | 613927.0002 | Disease | p.SER189PHE | C2 DEFICIENCY, TYPE II |
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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