Paralogue Annotation for RYR2 residue 1563

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1563
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1563

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1I1571VMalignant hyperthermiaMedium9 20681998, 22473935, 24055113, 25637381, 25735680, 25958340, 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.



RYR2VEPSTKLFPAVFAQATSPNVFQFELGRIKN>V<MPLSAGLFKSEHKNPVPQCPPRLHVQFLSH1593
RYR1VEPNTKLFPAVFVLPTHQNVIQFELGKQKN>I<MPLSAAMFQSERKNPAPQCPPRLEMQMLMP1601
RYR3VEPNTKVFPAVFLQPTSTSLFQFELGKLKN>A<MPLSAAIFRSEEKNPVPQCPPRLDVQTIQP1497
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1563 for RYR2.