Paralogue Annotation for RYR1 residue 4237

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4237
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4237

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	C4193W	Catecholaminergic polymorphic ventricular tachycar	High	9	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.

RYR1	PQVKESKRQFIFDVVNEGGEAEKMELFVSF>C<EDTIFEMQIAAQISEPEGEPETDEDEGAGA	4267
RYR2	PQVKESKRQFIFDVVNEGGEKEKMELFVNF>C<EDTIFEMQLAAQISESDLNERSANKEESEK	4223
RYR3	PQVKESKRQFIFDVVNEGGEQEKMELFVNF>C<EDTIFEMQLASQISESDSADRPEEEEEDED	4119
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 4237 for RYR1.