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Known Diseases associated with this Protein: | POLYCYSTIC KIDNEY DISEASE 1
| POLYCYSTIC KIDNEY DISEASE 1, SEVERE
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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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dbSNP | rs34197769 | Polymorphism | p.ALA3512VAL | N/A | dbSNP | rs3209986 | Polymorphism | p.ALA4059VAL | N/A | dbSNP | rs13337123 | Polymorphism | p.GLU2966ASP | N/A | dbSNP | rs10960 | Polymorphism | p.ILE4045VAL | N/A | dbSNP | rs2549677 | Polymorphism | p.MET1092THR | N/A | dbSNP | rs77028972 | Polymorphism | p.PHE3066LEU | N/A | dbSNP | rs148709380 | Polymorphism | p.THR938MET | N/A | dbSNP | rs116092985 | Polymorphism | p.TRP1399ARG | N/A | dbSNP | rs13333553 | Polymorphism | p.TRP2882ARG | N/A | dbSNP | rs61747420 | Polymorphism | p.VAL3409LEU | N/A | OMIM | 601313.0011 | Disease | p.ARG324LEU | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0004 | Disease | p.ARG4227TER | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0006 | Disease | p.CYS4086TER | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0002 | Disease | p.GLN1273TER | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0013 | Disease | p.GLN1922TER | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0005 | Disease | p.GLN3837TER | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0012 | Disease | p.LEU845SER | POLYCYSTIC KIDNEY DISEASE 1 | OMIM | 601313.0015 | Disease | p.TRP4139TER | POLYCYSTIC KIDNEY DISEASE 1, SEVERE | OMIM | 601313.0007 | Disease | p.TYR3818TER | POLYCYSTIC KIDNEY DISEASE 1 |
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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