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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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| 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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3915642
CO2_HUMAN RecName: Full=Complement C2; AltName: Full=C3/C5 convertase; Contains: RecName: Full=Complement C2b fragment; Contains: RecName: Full=Complement C2a fragment; Flags: Precursor
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