Paralogue Annotation for RYR1 residue 4245

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4245
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4245

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2Q4201RVentricular tachycardia, polymorphicHigh9 11157710, 15197150, 16239587, 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.



RYR1QFIFDVVNEGGEAEKMELFVSFCEDTIFEM>Q<IAAQISEPEGEPETDEDEGAGAAEAGAEGA4275
RYR2QFIFDVVNEGGEKEKMELFVNFCEDTIFEM>Q<LAAQISESDLNERSANKEESEK-----ERP4226
RYR3QFIFDVVNEGGEQEKMELFVNFCEDTIFEM>Q<LASQISESDSADRPEEEEEDEDSSYVLEIA4127
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4245 for RYR1.