Paralogue Annotation for RYR2 residue 4190

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4190
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4190

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1V4234LMalignant hyperthermiaHigh5 12208234
RYR1V4234LMalignant hyperthermiaHigh5 24013571

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.



RYR2WEKPQVKESKRQFIFDVVNEGGEKEKMELF>V<NFCEDTIFEMQLAAQISESDLNERSANKEE4220
RYR1WEMPQVKESKRQFIFDVVNEGGEAEKMELF>V<SFCEDTIFEMQIAAQISEPEGEPETDEDEG4264
RYR3WEKPQVKESKRQFIFDVVNEGGEQEKMELF>V<NFCEDTIFEMQLASQISESDSADRPEEEEE4116
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4190 for RYR2.