Paralogue Annotation for RYR1 residue 2662

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2662
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2662

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2G2628ECatecholaminergic polymorphic ventricular tachycarMedium9 23595086

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.



RYR1ILNEFAKMPLKLLTNHYERCWKYYCLPTGW>A<NFGVTSEEELHLTRKLFWGIFDSLAHKKYD2692
RYR2LLNEHAKMPLKLLTNHYERCWKYYCLPGGW>G<NFGAASEEELHLSRKLFWGIFDALSQKKYE2658
RYR3QLNEYCKMPLKLLTNHYEQCWKYYCLPSGW>G<SYGLAVEEELHLTEKLFWGIFDSLSHKKYD2555
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2662 for RYR1.