Paralogue Annotation for RYR2 residue 1068

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1068
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1068

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1D1056NMalignant hyperthermiaHigh8 20681998
RYR1D1056HMalignant hyperthermiaHigh8 24013571

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.



RYR2LDDRTKKSNKDSLREAVRTLLGYGYNLEAP>D<QDHAARAEVCSGTGERFRIFRAEKTYAVKA1098
RYR1LDEATKRSNRDSLCQAVRTLLGYGYNIEPP>D<QEP-SQVEN-QSRCDRVRIFRAEKSYTVQS1084
RYR3LDERTKKSNRDSLREAVRTFVGYGYNIEPS>D<QEL-ADSAVEKVSIDKIRFFRVERSYAVRS1084
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1068 for RYR2.