Known Diseases associated with this Protein: |  COMPLEMENT COMPONENT C1Q DEFICIENCY (C1QD)
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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_035551 | Polymorphism | p.ALA123THR | N/A | | Swiss-Prot | VAR_008541 | Disease | p.GLY42ASP | Complement component C1q deficiency (C1QD) | | dbSNP | rs111512332 | Polymorphism | p.VAL182MET | N/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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298286922
C1QB_HUMAN RecName: Full=Complement C1q subcomponent subunit B; Flags: Precursor
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