No paralogue variants have been mapped to residue 189 for RYR2.
RYR2 | WWTIHPASKQRSEGEKVRVGDDLILVSVSS>E<RYLHLSYGNGSLHVDAAFQQTLWSVAPISS | 219 |
RYR1 | WWTMHPASKQRSEGEKVRVGDDIILVSVSS>E<RYLHLSTASGELQVDASFMQTLWNMNPICS | 206 |
RYR3 | WWTIHPASKQRSEGEKVRIGDDLILVSVSS>E<RYLHLSVSNGNIQVDASFMQTLWNVHPTCS | 209 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E189D | c.567A>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Heart Rhythm 2006. Abstracts of the 27th Annual Meeting of the Heart Rhythm Society, Boston, Massachusetts, USA, May 17-20, 2006. Heart Rhythm. 2006 3(1 Suppl):S1-343. 16688893 | ||
Inherited Arrhythmia | CPVT | Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia. Channels (Austin). 2010 4(4):302-10. 20676041 | |||
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 |