Paralogue Annotation for RYR1 residue 2279

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2279
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2279

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2S2246LVentricular tachycardia, polymorphicHigh8 11208676, 12837242, 16239587, 19226252, 21768539, 23595086, 24025405, 27114410

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.



RYR1DHLSYLLENSGIG--L-GMQGSTPLDVAAA>S<VIDNNELALALQEQDLEKVVSYLAGCGLQS2309
RYR2DHLSYLLENSSVGLASPAMRGSTPLDVAAA>S<VMDNNELALALREPDLEKVVRYLAGCGLQS2276
RYR3EHLSYLLENSSVGLASPSMRGSTPLDVAAS>S<VMDNNELALSLEEPDLEKVVTYLAGCGLQS2173
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2279 for RYR1.