Paralogue Annotation for RYR2 residue 4828

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4828
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4828

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G4899ECentral core diseaseHigh9 11709545, 12642598, 15175001
RYR1G4899RCentral core diseaseHigh9 11741831, 20461000

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.

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See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4828 for RYR2.