Paralogue Annotation for RYR2 residue 4665

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4665
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4665

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R4737QMalignant hyperthermiaHigh9 16163667, 19648156
RYR1R4737WMalignant hyperthermiaHigh9 12208234, 26631338

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 4665 for RYR2.