Paralogue Annotation for RYR1 residue 1495

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1495
Reference Amino Acid: W - Tryptophan
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1495

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2C1489RSudden unexpected death in epilepsyMedium8 26704558

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.



RYR1LSKVRVVTVTMGDEQGNVHSSLKCSNCYMV>W<GGDFVSPGQQGRISHTDLVIGCLVDLATGL1525
RYR2LDRVRTVTVTLGDEKGKVHESIKRSNCYMV>C<AGESMSPGQ-G-RNNNGLEIGCVVDAASGL1517
RYR3LNKNCTVTVTLGDERGRVHESVKRSNCYMV>W<GGDIVASSQRSNRSNVDLEIGCLVDLAMGM1421
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 1495 for RYR1.