Paralogue Annotation for RYR2 residue 2418

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2418
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2418

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R2452QMalignant hyperthermiaHigh9 16917943
RYR1R2452PMalignant hyperthermiaHigh9 19191333
RYR1R2452WMalignant hyperthermiaHigh9 10823104, 22030266, 23394784, 25086907

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.



RYR2IMTFYSALIDLLGRCAPEMHLIHAGKGEAI>R<IRSILRSLIPLGDLVGVISIAFQMPTIAKD2448
RYR1IMSFYAALIDLLGRCAPEMHLIQAGKGEAL>R<IRAILRSLVPLEDLVGIISLPLQIPTLGKD2482
RYR3IMSFYSALIDLLGRCAPEMHLIQTGKGEAI>R<IRSILRSLVPTEDLVGIISIPLKLPSLNKD2345
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2418 for RYR2.