Paralogue Annotation for RYR2 residue 2811

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2811
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2811

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1S2843PMalignant hyperthermia ?Medium2 21455645, 22705209

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.



RYR2TMLAWGWRIERTREGDSMALYNRTRRISQT>S<QV--SVDAAHGYSPRAIDMSNVTLSRDLHA2839
RYR1AMIAWEWTIEKAREGEEEK--TEKKKTRKI>S<QSAQTYDPREGYNPQPPDLSAVTLSRELQA2873
RYR3TMLAVGWTVERTKEGEALVQQRENEKLRSV>S<QA--NQ--GNSYSPAPLDLSNVVLSRELQG2734
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2811 for RYR2.