Paralogue Annotation for RYR2 residue 2170

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2170
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2170

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1T2206RMalignant hyperthermiaHigh9 10484775
RYR1T2206MMalignant hyperthermiaHigh9 9497245, 18505122, 19648156, 23919265, 25558065

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 2170 for RYR2.