Paralogue Annotation for RYR2 residue 4843

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4843
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4843

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R4914TCentral core diseaseHigh9 12565913
RYR1R4914GCentral core diseaseHigh9 11709545, 12642598

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.



RYR2YMFHMYVGVRAGGGIGDEIEDPAGDEYEIY>R<IIFDITFFFFVIVILLAIIQGLIIDAFGEL4873
RYR1YLFHMYVGVRAGGGIGDEIEDPAGDEYELY>R<VVFDITFFFFVIVILLAIIQGLIIDAFGEL4944
RYR3YLFHMYVGVRAGGGIGDEIEDPAGDPYEMY>R<IVFDITFFFFVIVILLAIIQGLIIDAFGEL4776
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4843 for RYR2.