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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_063674 | Disease | p.ALA236GLY | Hemolytic uremic syndrome atypical 6 (AHUS6) | dbSNP | rs36110902 | Polymorphism | p.ALA162PRO | N/A | Swiss-Prot | VAR_011368 | Disease | p.ALA43THR | Hemolytic uremic syndrome atypical 6 (AHUS6) | dbSNP | rs1042579 | Polymorphism | p.ALA473VAL | N/A | Swiss-Prot | VAR_063673 | Disease | p.ASP34GLU | Hemolytic uremic syndrome atypical 6 (AHUS6) | Swiss-Prot | VAR_063223 | Disease | p.ASP53GLY | Hemolytic uremic syndrome atypical 6 (AHUS6) | Swiss-Prot | VAR_011371 | Disease | p.ASP486TYR | Thrombophilia due to thrombomodulin defect (THPH12) | Swiss-Prot | VAR_011369 | Polymorphism | p.GLY79ALA | N/A | Swiss-Prot | VAR_011373 | Disease | p.PRO501LEU | Hemolytic uremic syndrome atypical 6 (AHUS6) | Swiss-Prot | VAR_011372 | Disease | p.PRO495SER | Hemolytic uremic syndrome atypical 6 (AHUS6) | Swiss-Prot | VAR_063224 | Disease | p.VAL81LEU | Hemolytic uremic syndrome atypical 6 (AHUS6) | OMIM | 188040.0002 | Disease | p.ALA25THR | THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT | OMIM | 188040.0005 | Disease | p.ALA43THR | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 | OMIM | 188040.0008 | Disease | p.ALA455VAL | VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 188040.0009 | Disease | p.ARG385SER | THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT | OMIM | 188040.0006 | Disease | p.ASP53GLY | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 | OMIM | 188040.0001 | Disease | p.ASP468TYR | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 188040.0007 | Disease | p.PRO495SER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 |
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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