Paralogue Annotation for RYR1 residue 4630

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4630
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4630

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2H4558YCatecholaminergic polymorphic ventricular tachycarMedium8 22584762

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.



RYR1VSGAGSGGSSGW-GLGAGEEAEGDEDENMV>Y<YFLEESTGYMEPALRCLSLLHTLVAFLCII4660
RYR2PTRSSSENAK-VTSLDS-----SSHRIIAV>H<YVLEESSGYMEPTLRILAILHTVISFFCII4588
RYR3VANLWN-------SFND-----EEEEEAMV>F<FVLQESTGYMAPTLRALAIIHTIISLVCVV4493
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4630 for RYR1.