Paralogue Annotation for RYR2 residue 4637

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4637
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4637

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1T4709MMyopathy, congenitalHigh9 17483490, 23919265, 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.



RYR2ARKLEFDGLYITEQPSEDDIKGQWDRLVIN>T<QSFPNNYWDKFVKRKVMDKYGEFYGRDRIS4667
RYR1ARKLEFDGLYITEQPEDDDVKGQWDRLVLN>T<PSFPSNYWDKFVKRKVLDKHGDIYGRERIA4739
RYR3ARKLEFDGLYITEQPSEDDIKGQWDRLVIN>T<PSFPNNYWDKFVKRKVINKYGDLYGAERIA4572
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4637 for RYR2.