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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_044109 | Disease | p.ALA4860GLY | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044093 | Disease | p.ALA2387PRO | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044105 | Disease | p.ALA4607PRO | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044095 | Disease | p.ALA2403THR | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044104 | Disease | p.ALA4510THR | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011402 | Disease | p.ARG4497CYS | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044087 | Disease | p.ARG176GLN | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_023696 | Disease | p.ARG4959GLN | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044088 | Disease | p.ARG414LEU | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011399 | Disease | p.ARG2474SER | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044090 | Disease | p.ARG420TRP | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044112 | Disease | p.ASN4895ASP | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011398 | Disease | p.ASN2386ILE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011400 | Disease | p.ASN4104LYS | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044099 | Disease | p.ASN4097SER | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011590 | Polymorphism | p.GLN2958ARG | N/A | Swiss-Prot | VAR_011401 | Disease | p.GLN4201ARG | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044092 | Disease | p.GLU2311ASP | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044100 | Disease | p.GLU4146LYS | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044113 | Disease | p.GLU4950LYS | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044106 | Disease | p.GLY4671ARG | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | dbSNP | rs41315858 | Polymorphism | p.GLY1885GLU | N/A | Swiss-Prot | VAR_022078 | Polymorphism | p.GLY1886SER | N/A | Swiss-Prot | VAR_044098 | Disease | p.GLY3946SER | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044110 | Disease | p.ILE4867MET | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044089 | Disease | p.ILE419PHE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044108 | Disease | p.ILE4848VAL | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044097 | Disease | p.LEU3778PHE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011395 | Disease | p.LEU433PRO | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044103 | Disease | p.MET4504ILE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044102 | Disease | p.PHE4499CYS | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_023695 | Disease | p.PRO4902LEU | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044086 | Disease | p.PRO164SER | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011397 | Disease | p.PRO2328SER | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_011396 | Disease | p.SER2246LEU | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044096 | Disease | p.THR2504MET | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044101 | Disease | p.THR4158PRO | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044094 | Disease | p.TYR2392CYS | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044111 | Disease | p.VAL4880ALA | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_023694 | Disease | p.VAL2306ILE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | Swiss-Prot | VAR_044107 | Disease | p.VAL4771ILE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | dbSNP | rs16835270 | Polymorphism | p.VAL507ILE | N/A | Swiss-Prot | VAR_011403 | Disease | p.VAL4653PHE | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa | OMIM | 180902.0010 | Disease | p.ALA4860GLY | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0004 | Disease | p.ARG4497CYS | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0002 | Disease | p.ARG2474SER | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0005 | Disease | p.ASN2386ILE | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 | OMIM | 180902.0003 | Disease | p.ASN4104LYS | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0009 | Disease | p.GLN4201ARG | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0006 | Disease | p.LEU433PRO | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 | OMIM | 180902.0007 | Disease | p.PRO2328SER | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0001 | Disease | p.SER2246LEU | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | OMIM | 180902.0008 | Disease | p.VAL4653PHE | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 |
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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