Paralogue Annotation for RYR1 residue 4680

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4680
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4680

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R4608WSudden unexplained deathHigh9 24631775
RYR2R4608QCatecholaminergic polymorphic ventricular tachycarHigh9 25194972

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.



RYR1LHTLVAFLCIIGYNCLKVPLVIFKREKELA>R<KLEFDGLYITEQPEDDDVKGQWDRLVLNTP4710
RYR2LHTVISFFCIIGYYCLKVPLVIFKREKEVA>R<KLEFDGLYITEQPSEDDIKGQWDRLVINTQ4638
RYR3IHTIISLVCVVGYYCLKVPLVVFKREKEIA>R<KLEFDGLYITEQPSEDDIKGQWDRLVINTP4543
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4680 for RYR1.