Paralogue Annotation for RYR1 residue 4919

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4919
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4919

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2I4848VVentricular tachycardia, polymorphicHigh9 15466642, 24025405

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.



RYR1YVGVRAGGGIGDEIEDPAGDEYELYRVVFD>I<TFFFFVIVILLAIIQGLIIDAFGELRDQQE4949
RYR2YVGVRAGGGIGDEIEDPAGDEYEIYRIIFD>I<TFFFFVIVILLAIIQGLIIDAFGELRDQQE4878
RYR3YVGVRAGGGIGDEIEDPAGDPYEMYRIVFD>I<TFFFFVIVILLAIIQGLIIDAFGELRDQQE4781
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4919 for RYR1.