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Known Diseases associated with this Protein: | CARDIOMYOPATHY, DILATED 1KK (CMD1KK)
| CARDIOMYOPATHY, DILATED, 1KK
| CARDIOMYOPATHY, DILATED, 1KK, INCLUDED
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
| CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
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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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Swiss-Prot | VAR_069645 | Polymorphism | p.ALA217GLU | N/A | Swiss-Prot | VAR_069662 | Polymorphism | p.ALA1265PRO | N/A | Swiss-Prot | VAR_069649 | Disease | p.ALA611THR | Cardiomyopathy, dilated 1KK (CMD1KK) | Swiss-Prot | VAR_069653 | Disease | p.ALA882THR | Cardiomyopathy, dilated 1KK (CMD1KK) | Swiss-Prot | VAR_069655 | Polymorphism | p.ARG955GLN | N/A | Swiss-Prot | VAR_069658 | Disease | p.ARG1088HIS | Cardiomyopathy, dilated 1KK (CMD1KK) | Swiss-Prot | VAR_069656 | Polymorphism | p.ARG955TRP | N/A | dbSNP | rs74143030 | Polymorphism | p.GLU467LYS | N/A | Swiss-Prot | VAR_069650 | Polymorphism | p.GLU614LYS | N/A | Swiss-Prot | VAR_069651 | Polymorphism | p.GLY804ARG | N/A | Swiss-Prot | VAR_069644 | Disease | p.ILE213VAL | Cardiomyopathy, dilated 1KK (CMD1KK) | Swiss-Prot | VAR_069660 | Polymorphism | p.LEU1161ILE | N/A | Swiss-Prot | VAR_069643 | Polymorphism | p.LYS153ARG | N/A | dbSNP | rs10823148 | Polymorphism | p.PHE628LEU | N/A | Swiss-Prot | VAR_069654 | Disease | p.PHE954LEU | Cardiomyopathy, dilated 1KK (CMD1KK) | Swiss-Prot | VAR_069659 | Disease | p.PRO1112LEU | Cardiomyopathy, dilated 1KK (CMD1KK) | dbSNP | rs111965755 | Polymorphism | p.PRO816LEU | N/A | Swiss-Prot | VAR_069657 | Disease | p.PRO961LEU | Cardiomyopathy, dilated 1KK (CMD1KK) | dbSNP | rs7079481 | Polymorphism | p.PRO1135THR | N/A | Swiss-Prot | VAR_069652 | Polymorphism | p.PRO841THR | N/A | dbSNP | rs3814182 | Polymorphism | p.SER803ARG | N/A | dbSNP | rs10997975 | Polymorphism | p.SER691ASN | N/A | dbSNP | rs7916821 | Polymorphism | p.SER707ASN | N/A | Swiss-Prot | VAR_069642 | Disease | p.TYR20CYS | Cardiomyopathy, dilated 1KK (CMD1KK) | Swiss-Prot | VAR_069646 | Disease | p.TYR339PHE | Cardiomyopathy, dilated 1KK (CMD1KK) | dbSNP | rs11596653 | Polymorphism | p.VAL393ALA | N/A | Swiss-Prot | VAR_069647 | Polymorphism | p.VAL410ALA | N/A | Swiss-Prot | VAR_069663 | Polymorphism | p.VAL1306GLY | N/A | Swiss-Prot | VAR_069661 | Disease | p.VAL1195MET | Cardiomyopathy, dilated 1KK (CMD1KK) | OMIM | 608517.0001 | Disease | p.ARG1088HIS | CARDIOMYOPATHY, DILATED, 1KK | OMIM | 608517.0005 | Disease | p.GLN529TER | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 | OMIM | 608517.0002 | Disease | p.PRO1112LEU | CARDIOMYOPATHY, DILATED, 1KK||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED | OMIM | 608517.0006 | Disease | p.PRO961LEU | CARDIOMYOPATHY, DILATED, 1KK | OMIM | 608517.0004 | Disease | p.TYR20CYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22||CARDIOMYOPATHY, DILATED, 1KK, INCLUDED | OMIM | 608517.0003 | Disease | p.VAL1195MET | CARDIOMYOPATHY, DILATED, 1KK |
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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