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Known Diseases associated with this Protein: | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (ARVD9)
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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_065710 | Polymorphism | p.ALA372PRO | N/A | Swiss-Prot | VAR_065707 | Polymorphism | p.ALA195VAL | N/A | Swiss-Prot | VAR_070037 | Polymorphism | p.ARG490TRP | N/A | Swiss-Prot | VAR_070276 | Polymorphism | p.ASN76SER | N/A | Swiss-Prot | VAR_065701 | Polymorphism | p.ASP26ASN | N/A | Swiss-Prot | VAR_021151 | Disease | p.CYS796ARG | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065703 | Polymorphism | p.GLN62LYS | N/A | Swiss-Prot | VAR_065702 | Polymorphism | p.GLU58ASP | N/A | Swiss-Prot | VAR_065705 | Disease | p.GLU137LYS | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065712 | Polymorphism | p.GLY489ARG | N/A | Swiss-Prot | VAR_065717 | Polymorphism | p.GLY673VAL | N/A | Swiss-Prot | VAR_065714 | Polymorphism | p.ILE531SER | N/A | Swiss-Prot | VAR_065718 | Disease | p.LEU787PHE | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | dbSNP | rs1046116 | Polymorphism | p.LEU366PRO | N/A | Swiss-Prot | VAR_070277 | Polymorphism | p.LYS112ASN | N/A | Swiss-Prot | VAR_021150 | Disease | p.LYS654GLN | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065711 | Disease | p.PHE424SER | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065708 | Polymorphism | p.PRO276SER | N/A | Swiss-Prot | VAR_065706 | Disease | p.SER169GLY | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065704 | Polymorphism | p.SER70ILE | N/A | Swiss-Prot | VAR_021148 | Polymorphism | p.SER140PHE | N/A | Swiss-Prot | VAR_021149 | Disease | p.SER615PHE | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065709 | Polymorphism | p.THR338ALA | N/A | Swiss-Prot | VAR_065713 | Polymorphism | p.THR526MET | N/A | Swiss-Prot | VAR_065716 | Disease | p.TYR631CYS | Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9) | Swiss-Prot | VAR_065715 | Polymorphism | p.VAL587ILE | N/A | OMIM | 602861.0002 | Disease | p.ARG735TER | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | OMIM | 602861.0001 | Disease | p.ARG79TER | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 |
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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