No paralogue variants have been mapped to residue 2404 for RYR2.
RYR2 | TEEEEDDTIHMGNAIMTFYSALIDLLGRCA>P<EMHLIHAGKGEAIRIRSILRSLIPLGDLVG | 2434 |
RYR1 | EEPPEENRVHLGHAIMSFYAALIDLLGRCA>P<EMHLIQAGKGEALRIRAILRSLVPLEDLVG | 2468 |
RYR3 | DDEEEEEIVHMGNAIMSFYSALIDLLGRCA>P<EMHLIQTGKGEAIRIRSILRSLVPTEDLVG | 2331 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2404T | c.7210C>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Dual inheritance of sudden death from cardiovascular causes. N Engl J Med. 2008 358(19):2077-8. 18463390 | ||
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 | 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 |