Paralogue Annotation for RYR1 residue 4670

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4670
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4670

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR3V4503MColorectal cancerHigh9 25892863

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 RYR1.



RYR1MEPALRCLSLLHTLVAFLCIIGYNCLKVPL>V<IFKREKELARKLEFDGLYITEQPEDDDVKG4700
RYR2MEPTLRILAILHTVISFFCIIGYYCLKVPL>V<IFKREKEVARKLEFDGLYITEQPSEDDIKG4628
RYR3MAPTLRALAIIHTIISLVCVVGYYCLKVPL>V<VFKREKEIARKLEFDGLYITEQPSEDDIKG4533
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4670 for RYR1.