No paralogue variants have been mapped to residue 2359 for RYR2.
RYR2 | ECFGPALRGEGGNGLLAAMEEAIKIAEDPS>R<DGPSPNS-GSSKTLDTEEEEDDTIHMGNAI | 2388 |
RYR1 | ECFGPALRGEGGSGLLAAIEEAIRISEDPA>R<DGPGIRRDRRREHFGEEPPEENRVHLGHAI | 2422 |
RYR3 | ECFGPALRGEGGNGLLAAMQGAIKISENPA>L<DLPSQGY-KREVSTGDDEEEEEIVHMGNAI | 2285 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2359Q | c.7076G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Human cardiac ryanodine receptor mutations in ion channel disorders in Japan. Int J Cardiol. 2007 116(2):263-5. 16843546 | ||
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 |