Paralogue Annotation for RYR2 residue 169

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 169
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 169

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R156KMalignant hyperthermiaHigh9 16835904
RYR1R156WCentral core diseaseHigh9 23919265

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.

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See full Alignment of Paralogues

Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R169Qc.506G>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia. Int J Cardiol. 2006 108(2):276-8. 16517285
Inherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086
Inherited ArrhythmiaCPVT Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. J Mol Biol. 2013 425(21):4034-46. doi: 10.1016/j.jmb.2013.08.015. 23978697
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
Unknown Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations. Structure. 2009 17(11):1505-14. 19913485
p.R169Lc.506G>T Inherited ArrhythmiaCPVTSIFT:
ReportsInherited ArrhythmiaCPVT Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861