Paralogue Annotation for RYR2 residue 2127

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2127
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2127

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R2163CMalignant hyperthermiaHigh9 9497245, 12732639, 9334205, 9873004
RYR1R2163HMalignant hyperthermiaHigh9 9497245, 11524458, 19648156, 9334205, 9873004
RYR1R2163PMalignant hyperthermiaHigh9 10484775, 19191333

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.

cons                              > <                              

See full Alignment of Paralogues

Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2127Lc.6380G>T Inherited ArrhythmiaCPVTSIFT:
ReportsInherited ArrhythmiaCPVT Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace. 2013 15(7):1050-8. doi: 10.1093/europace/eus408. 23382499
p.R2127Gc.6379C>G Putative BenignSIFT:
p.Arg2127Glnc.6380G>A UnknownSIFT: