Paralogue Annotation for RYR1 residue 4168

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4168
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4168

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2S4124TVentricular tachycardia, polymorphicHigh9 16188589, 24025405
RYR2S4124GCatecholaminergic polymorphic ventricular tachycarHigh9 19330009, 24025405
RYR2S4124RCatecholaminergic polymorphic ventricular tachycarHigh9 23595086
RYR2S4124NCatecholaminergic polymorphic ventricular tachycarHigh9 26114861

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.

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See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 4168 for RYR1.