Paralogue Annotation for RYR2 residue 4754

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4754
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4754

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R4825PCentral core diseaseHigh9 16917943
RYR1R4825CCentral core diseaseHigh9 11709545

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.



RYR2WYMTMSVLGHYNNFFFAAHLLDIAMGFKTL>R<TILSSVTHNGKQLVLTVGLLAVVVYLYTVV4784
RYR1WYMVMSLLGHYNNFFFAAHLLDIAMGVKTL>R<TILSSVTHNGKQLVMTVGLLAVVVYLYTVV4855
RYR3WYTTMSVLGHYNNFFFAAHLLDIAMGFKTL>R<TILSSVTHNGKQLVLTVGLLAVVVYLYTVV4687
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4754 for RYR2.