Paralogue Annotation for RYR1 residue 4199

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4199
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4199

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2S4155YCatecholaminergic polymorphic ventricular tachycarMedium7 24147812

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.



RYR1ILEYFRPYLGRIEIMGASRRIERIYFEISE>T<NRAQWEMPQVKESKRQFIFDVVNEGGEAEK4229
RYR2VLNYFQPFLGRIEIMGSAKRIERVYFEISE>S<SRTQWEKPQVKESKRQFIFDVVNEGGEKEK4185
RYR3VLNYFEPYLGRIEIMGGAKKIERVYFEISE>S<SRTQWEKPQVKESKRQFIFDVVNEGGEQEK4081
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4199 for RYR1.