No paralogue variants have been mapped to residue 4895 for RYR2.
RYR2 | LIIDAFGELRDQQEQVKEDMETKCFICGIG>N<DYFDTVPHGFETHTLQEHNLANYLFFLMYL | 4925 |
RYR1 | LIIDAFGELRDQQEQVKEDMETKCFICGIG>S<DYFDTTPHGFETHTLEEHNLANYMFFLMYL | 4996 |
RYR3 | LIIDAFGELRDQQEQVREDMETKCFICGIG>N<DYFDTTPHGFETHTLQEHNLANYLFFLMYL | 4828 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4895D | c.14683A>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | ||
Inherited Arrhythmia | CPVT | Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 103(2):196-200. 11208676 | |||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 |