Paralogue Annotation for RYR2 residue 4823

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4823
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4823

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1A4894VCentral core diseaseHigh9 16917943
RYR1A4894TMalignant hyperthermiaHigh9 16917943, 21926372
RYR1A4894PMyopathy, congenital (CNMDU1)High9 17538032, 21926372

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 4823 for RYR2.