Paralogue Annotation for RYR2 residue 545

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 545
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 545

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R533HMalignant hyperthermiaHigh9 10484775, 23459219, 24055113, 25637381
RYR1R533CMalignant hyperthermiaHigh9 12709367, 23459219

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 RYR2.



RYR2ADVAGREAGESWKSILNSLYELLAALIRGN>R<KNCAQFSGSLDWLISRLERLEASSGILEVL575
RYR1AEFAGEEAAESWKEIVNLLYELLASLIRGN>R<SNCALFSTNLDWLVSKLDRLEASSGILEVL563
RYR3AGIAREESGMAWKEILNLLYKLLAALIRGN>R<NNCAQFSNNLDWLISKLDRLESSSGILEVL562
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 545 for RYR2.