Paralogue Annotation for RYR2 residue 616

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 616
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 616

No paralogue variants have been mapped to residue 616 for RYR2.



RYR2LNIIKEGHIKSIISLLDKHGRNHKVLDVLC>S<LCVCHGVAVRSNQHLICDNLLPGRDLLLQT646
RYR1LNIIQENHIKSIISLLDKHGRNHKVLDVLC>S<LCVCNGVAVRSNQDLITENLLPGRELLLQT634
RYR3LNLIAEGHIKSIISLLDKHGRNHKVLDILC>S<LCLCNGVAVRANQNLICDNLLPRRNLLLQT633
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S616Lc.1847C>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. BMC Med Genet. 2009 10:12. 19216760
Inherited ArrhythmiaCPVT 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