Paralogue Annotation for RYR2 residue 3688

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3688
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3688

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1Y3722HCentral core disease, RYR1-relatedHigh8 27066551

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.



RYR2TKRVDPLHQLILLFSRTALTEKCKLEEDFL>Y<MAYADIMAKSCHDEED-D--DGEEE-VKSF3714
RYR1EKKPDPLHQLVLHFSRTALTEKSKLDEDYL>Y<MAYADIMAKSCHLEEGGENGEAEEEVEVSF3752
RYR3EKQPDPLHQIILYFSRNALTERSKLEDDPL>Y<TSYSSMMAKSCQSGED-E--EEDEDKEKTF3604
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3688 for RYR2.