Paralogue Annotation for RYR1 residue 1591

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1591
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1591

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2P1583SArrhythmogenic right ventricular dysplasia/cardiomHigh9 25041964

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.



RYR1IQFELGKQKNIMPLSAAMFQSERKNPAPQC>P<PRLEMQMLMPVSWSRMPNHFLQVETRRAGE1621
RYR2FQFELGRIKNVMPLSAGLFKSEHKNPVPQC>P<PRLHVQFLSHVLWSRMPNQFLKVDVSRISE1613
RYR3FQFELGKLKNAMPLSAAIFRSEEKNPVPQC>P<PRLDVQTIQPVLWSRMPNSFLKVETERVSE1517
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 1591 for RYR1.