Paralogue Annotation for RYR2 residue 417

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 417
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 417

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R401SMalignant hyperthermiaHigh9 16163667
RYR1R401GMalignant hyperthermiaHigh9 16917943, 23422674
RYR1R401CMalignant hyperthermiaHigh9 12066726, 23459219, 23919265, 25735680
RYR1R401HMalignant hyperthermiaHigh9 12059893
RYR1R401LMalignant hyperthermiaHigh9 17968765

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.R417Gc.1249C>G Putative BenignSIFT: deleterious
Polyphen: possibly damaging
p.R417Qc.1250G>A Putative BenignSIFT:
p.Arg417Leuc.1250G>T UnknownSIFT: