Paralogue Annotation for RYR2 residue 4849

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4849
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4849

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1T4920NCentral core diseaseHigh9 16621918
RYR1T4920ICentral core diseaseHigh9 23919265

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.



RYR2VGVRAGGGIGDEIEDPAGDEYEIYRIIFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ4879
RYR1VGVRAGGGIGDEIEDPAGDEYELYRVVFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ4950
RYR3VGVRAGGGIGDEIEDPAGDPYEMYRIVFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ4782
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4849 for RYR2.