No paralogue variants have been mapped to residue 2367 for RYR2.
RYR2 | EGGNGLLAAMEEAIKIAEDPSRDGPSPNS->G<SSKTLDTEEEEDDTIHMGNAIMTFYSALID | 2397 |
RYR1 | EGGSGLLAAIEEAIRISEDPARDGPGIRRD>R<RREHFGEEPPEENRVHLGHAIMSFYAALID | 2431 |
RYR3 | EGGNGLLAAMQGAIKISENPALDLPSQGY->K<REVSTGDDEEEEEIVHMGNAIMSFYSALID | 2294 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2367R | c.7099G>A | Cardiomyopathy | rs369152386 | SIFT: tolerated Polyphen: benign | |
Reports | Cardiomyopathy | ARVD/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 |