Paralogue Annotation for RYR2 residue 4776

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4776
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4776

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1V4847LMalignant hyperthermia ?High9 21455645, 23558838

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.



RYR2IAMGFKTLRTILSSVTHNGKQLVLTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDGDTPDMKC4806
RYR1IAMGVKTLRTILSSVTHNGKQLVMTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDEDEPDMKC4877
RYR3IAMGFKTLRTILSSVTHNGKQLVLTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDDDEPDMKC4709
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4776 for RYR2.