Paralogue Annotation for RYR1 residue 1122

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1122
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1122

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A1136VCatecholaminergic polymorphic ventricular tachycarMedium8 19597050, 19926015, 21315846, 24025405, 24237251, 25569433, 27153395, 26332594

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.



RYR1EAVTTGEMRVGWARPELRPDVELGADELAY>V<FNGHRGQRWHLGSEPFGRPWQPGDVVGCMI1152
RYR2ETVTAGDMRVGWSRPGCQPDQELGSDERAF>A<FDGFKAQRWHQGNEHYGRSWQAGDVVGCMV1166
RYR3EVVTGGDMRVGWARPGCRPDVELGADDQAF>V<FEGNRGQRWHQGSGYFGRTWQPGDVVGCMI1152
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 1122 for RYR1.