Paralogue Annotation for RYR2 residue 4826

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4826
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4826

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G4897VCentral core diseaseHigh9 17226826, 23308296
RYR1G4897DCentral core diseaseHigh9 23919265

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.



RYR2SEDGDTPDMKCDDMLTCYMFHMYVGVRAGG>G<IGDEIEDPAGDEYEIYRIIFDITFFFFVIV4856
RYR1SEDEDEPDMKCDDMMTCYLFHMYVGVRAGG>G<IGDEIEDPAGDEYELYRVVFDITFFFFVIV4927
RYR3SEDDDEPDMKCDDMMTCYLFHMYVGVRAGG>G<IGDEIEDPAGDPYEMYRIVFDITFFFFVIV4759
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4826 for RYR2.