No paralogue variants have been mapped to residue 2534 for RYR2.
RYR2 | TAALSATDMALALNRYLCTAVLPLLTRCAP>L<FAGTEHHASLIDSLLHTVYRLSKGCSLTKA | 2564 |
RYR1 | TATFSTTEMALALNRYLCLAVLPLITKCAP>L<FAGTEHRAIMVDSMLHTVYRLSRGRSLTKA | 2598 |
RYR3 | TVSLSTTEAALALNRYICSAVLPLLTRCAP>L<FAGTEHCTSLIDSTLQTIYRLSKGRSLTKA | 2461 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2534V | c.7600C>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder. J Cardiovasc Electrophysiol. 2004 15(6):729. 15175074 | ||
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 |