Paralogue Annotation for RYR2 residue 1070

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1070
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1070

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1E1058KMalignant hyperthermiaMedium5 20142353

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.



RYR2DRTKKSNKDSLREAVRTLLGYGYNLEAPDQ>D<HAARAEVCSGTGERFRIFRAEKTYAVKAGR1100
RYR1EATKRSNRDSLCQAVRTLLGYGYNIEPPDQ>E<P-SQVEN-QSRCDRVRIFRAEKSYTVQSGR1086
RYR3ERTKKSNRDSLREAVRTFVGYGYNIEPSDQ>E<L-ADSAVEKVSIDKIRFFRVERSYAVRSGK1086
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1070 for RYR2.