Paralogue Annotation for RYR2 residue 3409

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3409
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3409

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1S3448FMyopathy, congenitalHigh9 16380615

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.



RYR2YNRAKWLKEPNPEAEELFRMVAEVFIYWSK>S<HNFKREEQNFVVQNEINNMSFLITDTKSKM3439
RYR1NNRAQWLTEPNPSAEELFRMVGEIFIYWSK>S<HNFKREEQNFVVQNEINNMSFLTADNKSKM3478
RYR3NNRSNWLKSPDADSDQLFRMVAEVFILWCK>S<HNFKREEQNFVIQNEINNLAFLTGDSKSKM3335
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3409 for RYR2.