Paralogue Annotation for RYR2 residue 406

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 406
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 406

No paralogue variants have been mapped to residue 406 for RYR2.



RYR2SVDVKSVRMGSIQRKAIMHHEGHMDDGISL>S<RSQHEESRTARVIRSTVFLFNRFIRGLDAL436
RYR1APDPKALRLGVLKKKAMLHQEGHMDDALSL>T<RCQQEESQAARMIHSTNGLYNQFIKSLDSF420
RYR3AQDAKTSRLGPLKRKVILHQEGHMDDGLTL>Q<RCQREESQAARIIRNTTALFSQFVSGN---425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S406Lc.1217C>T Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol Med. 2012 4(3):180-91. doi: 10.1002/emmm.201100194. 22174035
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
Inherited ArrhythmiaCPVT Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet Med. 2015 17(12):1007-11. doi: 10.1038/gim.2015.26. 25856671