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Known Diseases associated with this Protein: |  COMPLEMENT FACTOR D DEFICIENCY
| COMPLEMENT FACTOR D DEFICIENCY (CFDD)
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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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| Swiss-Prot | VAR_034867 | Disease | p.CYS214ARG | Complement factor D deficiency (CFDD) | | dbSNP | rs2230216 | Polymorphism | p.ILE248MET | N/A | | Swiss-Prot | VAR_034866 | Disease | p.VAL213GLY | Complement factor D deficiency (CFDD) | | OMIM | 134350.0002 | Disease | p.CYS214ARG | COMPLEMENT FACTOR D DEFICIENCY | | OMIM | 134350.0001 | Disease | p.SER42TER | COMPLEMENT FACTOR D DEFICIENCY | | OMIM | 134350.0002 | Disease | p.VAL213GLY | COMPLEMENT FACTOR D DEFICIENCY |
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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158515408
CFAD_HUMAN RecName: Full=Complement factor D; AltName: Full=Adipsin; AltName: Full=C3 convertase activator; AltName: Full=Properdin factor D; Flags: Precursor
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