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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_065478 | Disease | p.ARG279CYS | Cardiomyopathy, familial hypertrophic 20 (CMH20) | Swiss-Prot | VAR_059414 | Polymorphism | p.ARG335LYS | N/A | Swiss-Prot | VAR_065477 | Disease | p.GLN131GLU | Cardiomyopathy, familial hypertrophic 20 (CMH20) | dbSNP | rs1166698 | Polymorphism | p.GLY245ARG | N/A | Swiss-Prot | VAR_063009 | Disease | p.PRO611THR | Cardiomyopathy, dilated 1CC (CMD1CC) | Swiss-Prot | VAR_063011 | Disease | p.TYR652CYS | Cardiomyopathy, dilated 1CC (CMD1CC) | OMIM | 613121.0005 | Disease | p.ARG279CYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 | OMIM | 613121.0004 | Disease | p.GLN131GLU | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 | OMIM | 613121.0003 | Disease | p.PRO611THR | CARDIOMYOPATHY, DILATED, 1CC | OMIM | 613121.0002 | Disease | p.TYR652CYS | CARDIOMYOPATHY, DILATED, 1CC |
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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