Paralogue Annotation for RYR1 residue 4347

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4347
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4347

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2V4298MLong QT syndromeMedium7 21126784

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.



RYR1VRRLRRLTAREAATAVAALLWAAVTRAGAA>G<AGAAAGALGLLWGSLFGGGLVEGAKKVTVT4377
RYR2MKKVKKMTVKDMVTAFFSSYWSIFMTLLHF>V<ASVFRGFFRIICSLLLGGSLVEGAKKIKVA4328
RYR3YRNVKKMTAKELVKVLFSFFWMLFVGLFQL>L<FTILGGIFQILWSTVFGGGLVEGAKNIRVT4229
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4347 for RYR1.