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Known Diseases associated with this Protein: | POLYCYSTIC KIDNEY DISEASE 2
| POLYCYSTIC KIDNEY DISEASE 2 (PKD2)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_011073 | Disease | p.ALA356PRO | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_064394 | Disease | p.ALA384PRO | Polycystic kidney disease 2 (PKD2) | dbSNP | rs117078377 | Polymorphism | p.ALA190THR | N/A | Swiss-Prot | VAR_058822 | Disease | p.ARG306GLN | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_058823 | Disease | p.ARG322GLN | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_058830 | Disease | p.ARG807GLN | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_058825 | Disease | p.ARG420GLY | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_011072 | Polymorphism | p.ARG28PRO | N/A | Swiss-Prot | VAR_058824 | Disease | p.ARG322TRP | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_058827 | Disease | p.ASP511VAL | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_058828 | Disease | p.CYS632ARG | Polycystic kidney disease 2 (PKD2) | Swiss-Prot | VAR_014919 | Polymorphism | p.ILE452VAL | N/A | Swiss-Prot | VAR_058829 | Polymorphism | p.MET800LEU | N/A | Swiss-Prot | VAR_058826 | Polymorphism | p.PHE482CYS | N/A | Swiss-Prot | VAR_058820 | Polymorphism | p.PRO24LEU | N/A | Swiss-Prot | VAR_009195 | Disease | p.TRP414GLY | Polycystic kidney disease 2 (PKD2) | OMIM | 173910.0005 | Disease | p.ARG464TER | POLYCYSTIC KIDNEY DISEASE 2 | OMIM | 173910.0002 | Disease | p.ARG742TER | POLYCYSTIC KIDNEY DISEASE 2 | OMIM | 173910.0008 | Disease | p.ASP511VAL | POLYCYSTIC KIDNEY DISEASE 2 | OMIM | 173910.0003 | Disease | p.GLN405TER | POLYCYSTIC KIDNEY DISEASE 2 | OMIM | 173910.0001 | Disease | p.TRP380TER | POLYCYSTIC KIDNEY DISEASE 2 |
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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