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Known Diseases associated with this Protein: | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION PLCG2-ASSOCIATED (APLAID)
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
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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 | rs1071644 | Polymorphism | p.ARG1031SER | N/A | Swiss-Prot | VAR_031561 | Polymorphism | p.ARG268TRP | N/A | Swiss-Prot | VAR_047428 | Polymorphism | p.ASP883TYR | N/A | Swiss-Prot | VAR_031560 | Polymorphism | p.HIS244ARG | N/A | dbSNP | rs115583707 | Polymorphism | p.PHE838LEU | N/A | Swiss-Prot | VAR_069211 | Disease | p.SER707TYR | Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) | Swiss-Prot | VAR_047427 | Polymorphism | p.THR541ALA | N/A | dbSNP | rs4586425 rs1143685 | Polymorphism | p.TRP58CYS | N/A | dbSNP | rs17537869 rs1143687 | Polymorphism | p.VAL268LEU | N/A | OMIM | 600220.0004 | Disease | p.SER707TYR | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |
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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