Paralogue Annotation for RYR1 residue 2473

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2473
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2473

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A2439TCardiomyopathy, right ventricularMedium9 24981977

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 RYR1.



RYR1IQAGKGEALRIRAILRSLVPLEDLVGIISL>P<LQIPTLGKDGALVQPKMSASFVPDHKASMV2503
RYR2IHAGKGEAIRIRSILRSLIPLGDLVGVISI>A<FQMPTIAKDGNVVEPDMSAGFCPDHKAAMV2469
RYR3IQTGKGEAIRIRSILRSLVPTEDLVGIISI>P<LKLPSLNKDGSVSEPDMAANFCPDHKAPMV2366
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2473 for RYR1.