Paralogue Annotation for RYR2 residue 4745

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4745
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4745

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1D4816HMyopathy, RYR1-associatedHigh9 23553484

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.



RYR2TDNSFLYLAWYMTMSVLGHYNNFFFAAHLL>D<IAMGFKTLRTILSSVTHNGKQLVLTVGLLA4775
RYR1TDNSFLYLGWYMVMSLLGHYNNFFFAAHLL>D<IAMGVKTLRTILSSVTHNGKQLVMTVGLLA4846
RYR3TDNSFLYLAWYTTMSVLGHYNNFFFAAHLL>D<IAMGFKTLRTILSSVTHNGKQLVLTVGLLA4678
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4745 for RYR2.