Paralogue Annotation for RYR2 residue 4753

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4753
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4753

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1L4824PMalignant hyperthermiaHigh9 14985404

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.



RYR2AWYMTMSVLGHYNNFFFAAHLLDIAMGFKT>L<RTILSSVTHNGKQLVLTVGLLAVVVYLYTV4783
RYR1GWYMVMSLLGHYNNFFFAAHLLDIAMGVKT>L<RTILSSVTHNGKQLVMTVGLLAVVVYLYTV4854
RYR3AWYTTMSVLGHYNNFFFAAHLLDIAMGFKT>L<RTILSSVTHNGKQLVLTVGLLAVVVYLYTV4686
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4753 for RYR2.