Paralogue Annotation for RYR1 residue 454

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 454
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 454

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2P466AVentricular tachycardia, polymorphicHigh5 16188589, 24025405, 25637381

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.



RYR1PRGSGPPAGTALPIEGVILSLQDLIIYFEP>P<SEDLQHEEKQSKLRSLRNRQSLFQEEGMLS484
RYR2AKA----STVDLPIESVSLSLQDLIGYFHP>P<DEHLEHEDKQNRLRALKNRQNLFQEEGMIN496
RYR3RTA----APITLPIEEVLQTLQDLIAYFQP>P<EEEMRHEDKQNKLRSLKNRQNLFKEEGMLA483
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 454 for RYR1.