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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_063553 | Disease | p.ALA1004SER | Cardiomyopathy, dilated 1EE (CMD1EE) | dbSNP | rs28730771 | Polymorphism | p.ALA1130THR | N/A | Swiss-Prot | VAR_063558 | Polymorphism | p.ARG1502GLN | N/A | Swiss-Prot | VAR_031882 | Disease | p.ARG795GLN | Cardiomyopathy, familial hypertrophic 14 (CMH14) | Swiss-Prot | VAR_065561 | Disease | p.ARG721TRP | Sick sinus syndrome 3 (SSS3) | Swiss-Prot | VAR_063554 | Disease | p.GLN1065HIS | Cardiomyopathy, familial hypertrophic 14 (CMH14) | Swiss-Prot | VAR_061364 | Polymorphism | p.GLN1593LEU | N/A | Swiss-Prot | VAR_063556 | Polymorphism | p.GLU1295GLN | N/A | Swiss-Prot | VAR_030203 | Polymorphism | p.GLU88GLN | N/A | Swiss-Prot | VAR_063557 | Disease | p.GLU1457LYS | Cardiomyopathy, dilated 1EE (CMD1EE) | dbSNP | rs28711516 | Polymorphism | p.GLY56ARG | N/A | Swiss-Prot | VAR_063551 | Polymorphism | p.ILE275ASN | N/A | Swiss-Prot | VAR_031883 | Disease | p.ILE820ASN | Atrial septal defect 3 (ASD3) | Swiss-Prot | VAR_030204 | Polymorphism | p.LEU783MET | N/A | Swiss-Prot | VAR_063552 | Disease | p.PRO830LEU | Cardiomyopathy, dilated 1EE (CMD1EE) | Swiss-Prot | VAR_030206 | Polymorphism | p.THR1737SER | N/A | dbSNP | rs365990 | Polymorphism | p.VAL1101ALA | N/A | OMIM | 160710.0006 | Disease | p.ALA1004SER | CARDIOMYOPATHY, DILATED, 1EE | OMIM | 160710.0002 | Disease | p.ARG795GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 | OMIM | 160710.0008 | Disease | p.ARG721TRP | SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO | OMIM | 160710.0004 | Disease | p.GLN1065HIS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 | OMIM | 160710.0007 | Disease | p.GLU1457LYS | CARDIOMYOPATHY, DILATED, 1EE | OMIM | 160710.0003 | Disease | p.ILE820ASN | ATRIAL SEPTAL DEFECT 3 | OMIM | 160710.0005 | Disease | p.PRO830LEU | CARDIOMYOPATHY, DILATED, 1EE |
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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