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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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Swiss-Prot | VAR_006495 | Polymorphism | p.ALA736SER | N/A | Swiss-Prot | VAR_063660 | Disease | p.ARG203GLN | Hemolytic uremic syndrome atypical 4 (AHUS4) | dbSNP | rs641153 | Polymorphism | p.ARG32GLN | N/A | dbSNP | rs12614 | Polymorphism | p.ARG32TRP | N/A | dbSNP | rs4151660 | Polymorphism | p.ASP651GLU | N/A | dbSNP | rs4151651 | Polymorphism | p.GLY252SER | N/A | Swiss-Prot | VAR_063661 | Disease | p.ILE242LEU | Hemolytic uremic syndrome atypical 4 (AHUS4) | dbSNP | rs4151667 | Polymorphism | p.LEU9HIS | N/A | Swiss-Prot | VAR_063664 | Disease | p.LYS533ARG | Hemolytic uremic syndrome atypical 4 (AHUS4) | Swiss-Prot | VAR_063662 | Disease | p.LYS323GLN | Hemolytic uremic syndrome atypical 4 (AHUS4) | Swiss-Prot | VAR_063222 | Disease | p.LYS323GLU | Hemolytic uremic syndrome atypical 4 (AHUS4) | dbSNP | rs4151659 | Polymorphism | p.LYS565GLU | N/A | Swiss-Prot | VAR_063663 | Disease | p.MET458ILE | Hemolytic uremic syndrome atypical 4 (AHUS4) | Swiss-Prot | VAR_063221 | Disease | p.PHE286LEU | Hemolytic uremic syndrome atypical 4 (AHUS4) | Swiss-Prot | VAR_063659 | Disease | p.SER166PRO | Hemolytic uremic syndrome atypical 4 (AHUS4) | Swiss-Prot | VAR_006492 | Polymorphism | p.TRP28ARG | N/A | Swiss-Prot | VAR_006493 | Polymorphism | p.TRP28GLN | N/A | OMIM | 138470.0004 | Disease | p.ARG32GLN | MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF | OMIM | 138470.0001 | Polymorphism | p.ARG8GLN | FACTOR B FAST-SLOW POLYMORPHISM||BF*FA/S | OMIM | 138470.0002 | Polymorphism | p.ARG8TRP | FACTOR B FAST-SLOW POLYMORPHISM||BF*FB/S | OMIM | 138470.0007 | Disease | p.GLN256TER | COMPLEMENT FACTOR B DEFICIENCY (1 family) | OMIM | 138470.0003 | Disease | p.LEU9HIS | MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF | OMIM | 138470.0006 | Disease | p.LYS323GLU | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | OMIM | 138470.0005 | Disease | p.PHE286LEU | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 |
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.
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