Paralogue Annotation for RYR2 residue 3497

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3497
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3497

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1A3541TAxial myopathy, late-onsetMedium9 23329375, 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 RYR2.



RYR2VAALKRLLPIGLNICAPGDQELIALAKNRF>S<LKDTEDEVRDIIRSNIHLQGKLE-DPAIRW3526
RYR1VATLKKMLPIGLNMCAPTDQDLITLAKTRY>A<LKDTDEEVREFLHNNLHLQGKVEGSPSLRW3571
RYR3VAALKKMLPIGLNMCTPGDQELISLAKSRY>S<HRDTDEEVREHLRNNLHLQEKSD-DPAVKW3427
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3497 for RYR2.