Paralogue Annotation for RYR2 residue 2424

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2424
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2424

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R2458CMalignant hyperthermiaHigh5 9450902, 11668625, 9334205, 9873004
RYR1R2458HMalignant hyperthermiaHigh5 9450902, 19648156, 12732639, 9334205, 9873004, 24319099, 22415532
RYR1R2458LMalignant hyperthermiaHigh5 21965348

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.



RYR2ALIDLLGRCAPEMHLIHAGKGEAIRIRSIL>R<SLIPLGDLVGVISIAFQMPTIAKDGNVVEP2454
RYR1ALIDLLGRCAPEMHLIQAGKGEALRIRAIL>R<SLVPLEDLVGIISLPLQIPTLGKDGALVQP2488
RYR3ALIDLLGRCAPEMHLIQTGKGEAIRIRSIL>R<SLVPTEDLVGIISIPLKLPSLNKDGSVSEP2351
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2424 for RYR2.