Paralogue Annotation for RYR2 residue 4068

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4068
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4068

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1S4112LMyopathy, centronuclearHigh9 17376685

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.



RYR2DGKGVISKRDFHKAMESHKHYTQSETEFLL>S<CAETDENETLDYEEFVKRFHEPAKDIGFNV4098
RYR1DPRGLISKKDFQKAMDSQKQFSGPEIQFLL>S<CSEADENEMINCEEFANRFQEPARDIGFNV4142
RYR3DGKGIISKKEFQKAMEGQKQYTQSEIDFLL>S<CAEADENDMFNYVDFVDRFHEPAKDIGFNV3994
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4068 for RYR2.