Paralogue Annotation for RYR1 residue 1093

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1093
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1093

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2T1107MCatecholaminergic polymorphic ventricular tachycarMedium9 19926015, 22374134, 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.



RYR1N-QSRCDRVRIFRAEKSYTVQSGRWYFEFE>A<VTTGEMRVGWARPELRPDVELGADELAYVF1123
RYR2VCSGTGERFRIFRAEKTYAVKAGRWYFEFE>T<VTAGDMRVGWSRPGCQPDQELGSDERAFAF1137
RYR3VEKVSIDKIRFFRVERSYAVRSGKWYFEFE>V<VTGGDMRVGWARPGCRPDVELGADDQAFVF1123
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 1093 for RYR1.