Paralogue Annotation for RYR2 residue 564

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 564
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 564

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R552WMalignant hyperthermiaHigh8 9138151, 9334205, 9873004
RYR1R552QPeripheral neuropathyHigh8 24627108

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.



RYR2YELLAALIRGNRKNCAQFSGSLDWLISRLE>R<LEASSGILEVLHCVLVESPEALNIIKEGHI594
RYR1YELLASLIRGNRSNCALFSTNLDWLVSKLD>R<LEASSGILEVLYCVLIESPEVLNIIQENHI582
RYR3YKLLAALIRGNRNNCAQFSNNLDWLISKLD>R<LESSSGILEVLHCILTESPEALNLIAEGHI581
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 564 for RYR2.