Paralogue Annotation for RYR2 residue 4864

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4864
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4864

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G4935SMalignant hyperthermiaHigh9 19918671, 21455645

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.



RYR2PAGDEYEIYRIIFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVKEDMETKCFICGIG4894
RYR1PAGDEYELYRVVFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVKEDMETKCFICGIG4965
RYR3PAGDPYEMYRIVFDITFFFFVIVILLAIIQ>G<LIIDAFGELRDQQEQVREDMETKCFICGIG4797
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4864 for RYR2.