Paralogue Annotation for RYR2 residue 905

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 905
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 905

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G893SMyopathy, congenitalHigh9 22473935, 24055113, 25637381, 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.



RYR2PPHLERIREKLAENIHELWVMNKIELGWQY>G<PVRDDNKRQHPCLVEFSKLPEQERNYNLQM935
RYR1PPHLERIREKLAENIHELWALTRIEQGWTY>G<PVRDDNKRLHPCLVDFHSLPEPERNYNLQM923
RYR3PPHLEKIRDRLAENIHELWGMNKIELGWTF>G<KIRDDNKRQHPCLVEFSKLPETEKNYNLQM922
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 905 for RYR2.