Paralogue Annotation for RYR2 residue 2397

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2397
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2397

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1D2431NMalignant hyperthermiaHigh9 11575529, 25637381
RYR1D2431YMalignant hyperthermiaHigh9 16917943, 19648156

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

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Asp2397Tyrc.7189G>T UnknownSIFT: