Paralogue Annotation for RYR2 residue 4789

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4789
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4789

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1F4860VCentral core diseaseHigh9 16917943

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.



RYR2SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDGDTPDMKCDDMLTCYMFHMYV4819
RYR1SVTHNGKQLVMTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDEDEPDMKCDDMMTCYLFHMYV4890
RYR3SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDDDEPDMKCDDMMTCYLFHMYV4722
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4789 for RYR2.