No paralogue variants have been mapped to residue 164 for RYR2.
RYR2 | STSRSSTDKLAFDVGLQEDTTGEACWWTIH>P<ASKQRSEGEKVRVGDDLILVSVSSERYLHL | 194 |
RYR1 | TTSRSMTDKLAFDVGLQEDATGEACWWTMH>P<ASKQRSEGEKVRVGDDIILVSVSSERYLHL | 181 |
RYR3 | TTSRSQTDKLAFDVGLREHATGEACWWTIH>P<ASKQRSEGEKVRIGDDLILVSVSSERYLHL | 184 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P164S | c.490C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | ||
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 | Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. J Mol Biol. 2013 425(21):4034-46. doi: 10.1016/j.jmb.2013.08.015. 23978697 | |||
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 | |||
p.P164T | c.490C>A | Putative Benign | SIFT: Polyphen: |