Paralogue Annotation for RYR1 residue 917

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 917
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 917

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	R929H	Cardiomyopathy, hypertrophic	High	9	26573135

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	EQGWTYGPVRDDNKRLHPCLVDFHSLPEPE>R<NYNLQMSGETLKTLLALGCHVGMADEKAED	947
RYR2	ELGWQYGPVRDDNKRQHPCLVEFSKLPEQE>R<NYNLQMSLETLKTLLALGCHVGISDEHAED	959
RYR3	ELGWTFGKIRDDNKRQHPCLVEFSKLPETE>K<NYNLQMSTETLKTLLALGCHIAHVNPAAEE	946
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 917 for RYR1.