Paralogue Annotation for RYR2 residue 2696

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2696
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2696

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1D2730GMalignant hyperthermiaHigh8 16917943, 19191329
RYR1D2730HMalignant hyperthermiaHigh8 16917943

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.



RYR2LPCLSAVAGALPPDYMESNYVSMMEKQSSM>D<SEGNFNPQPVDTSNITIPEKLEYFINKYAE2726
RYR1MPCLCAIAGALPPDYVDASYSSKAEKKATV>D<AEGNFDPRPVETLNVIIPEKLDSFINKFAE2760
RYR3LPCLSAIAGALPPDYLDTRITATLEKQISV>D<ADGNFDPKPINTMNFSLPEKLEYIVTKYAE2623
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2696 for RYR2.