No paralogue variants have been mapped to residue 2254 for RYR2.
RYR2 | NSSVGLASPAMRGSTPLDVAAASVMDNNEL>A<LALREPDLEKVVRYLAGCGLQSCQMLVSKG | 2284 |
RYR1 | NSGIG--L-GMQGSTPLDVAAASVIDNNEL>A<LALQEQDLEKVVSYLAGCGLQSCPMLVAKG | 2317 |
RYR3 | NSSVGLASPSMRGSTPLDVAASSVMDNNEL>A<LSLEEPDLEKVVTYLAGCGLQSCPMLLAKG | 2181 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2254V | c.6761C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005 112(2):207-13. 15998675 | ||
Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | |||
Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005 42(11):863-70. 16272262 | |||
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 |