Paralogue Annotation for RYR2 residue 1364

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1364
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1364

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1A1352GMalignant hyperthermiaMedium2 19191329, 21795085, 22995991, 25637381, 25735680, 25985138, 26332594

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.



RYR2LEDYDADSDFEVLMKTAHGHLVPDRVDKDK>E<ATKPEFNNHK--------------DYAQEK1380
RYR1ARAAEPDPDYENLRRSAGGWSEAENGKEGT>A<KEGAPGGTPQAGGEAQPARAENEKDATTEK1382
RYR3------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1364 for RYR2.