Paralogue Annotation for RYR2 residue 1354

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1354
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1354

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1S1342GMyopathy, congenitalLow2 21911697, 24195946, 25658027, 25735680

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.



RYR2AGLFGPK-NDLEDYDADSDFEVLMKTAHGH>L<VPDRVDKDKEATKPEFNNHK----------1374
RYR1PGLQPPAEDEARAAEPDPDYENLRRSAGGW>S<EAENGKEGTAKEGAPGGTPQAGGEAQPARA1372
RYR3------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1354 for RYR2.