Paralogue Annotation for RYR1 residue 1589

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1589
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1589

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	Q1581P	Sudden unexplained death	High	9	26164358

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	NVIQFELGKQKNIMPLSAAMFQSERKNPAP>Q<CPPRLEMQMLMPVSWSRMPNHFLQVETRRA	1619
RYR2	NVFQFELGRIKNVMPLSAGLFKSEHKNPVP>Q<CPPRLHVQFLSHVLWSRMPNQFLKVDVSRI	1611
RYR3	SLFQFELGKLKNAMPLSAAIFRSEEKNPVP>Q<CPPRLDVQTIQPVLWSRMPNSFLKVETERV	1515
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 1589 for RYR1.