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Known Diseases associated with this Protein: |  MANNOSE-BINDING PROTEIN DEFICIENCY
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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 | rs5030737 | Polymorphism | p.ARG52CYS | N/A | | Swiss-Prot | VAR_050119 | Polymorphism | p.ASN214TYR | N/A | | dbSNP | rs1800450 | Polymorphism | p.GLY54ASP | N/A | | dbSNP | rs1800451 | Polymorphism | p.GLY57GLU | N/A | | Swiss-Prot | VAR_013294 | Polymorphism | p.THR24ALA | N/A | | OMIM | 154545.0003 | Disease | p.ARG52CYS | MANNOSE-BINDING PROTEIN DEFICIENCY | | OMIM | 154545.0001 | Disease | p.GLY54ASP | MANNOSE-BINDING PROTEIN DEFICIENCY | | OMIM | 154545.0002 | Disease | p.GLY57GLU | MANNOSE-BINDING PROTEIN 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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126676
MBL2_HUMAN RecName: Full=Mannose-binding protein C; Short=MBP-C; AltName: Full=Collectin-1; AltName: Full=MBP1; AltName: Full=Mannan-binding protein; AltName: Full=Mannose-binding lectin; Flags: Precursor
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