Paralogue Annotation for RYR2 residue 2367

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2367
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2367

No paralogue variants have been mapped to residue 2367 for RYR2.



RYR2EGGNGLLAAMEEAIKIAEDPSRDGPSPNS->G<SSKTLDTEEEEDDTIHMGNAIMTFYSALID2397
RYR1EGGSGLLAAIEEAIRISEDPARDGPGIRRD>R<RREHFGEEPPEENRVHLGHAIMSFYAALID2431
RYR3EGGNGLLAAMQGAIKISENPALDLPSQGY->K<REVSTGDDEEEEEIVHMGNAIMSFYSALID2294
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2367Rc.7099G>A Cardiomyopathyrs369152386SIFT: tolerated
Polyphen: benign
ReportsCardiomyopathyARVD/C Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964
Other Cardiac Phenotype Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet. 2016 24(6):817-22. doi: 10.1038/ejhg.2015.198. 26350513