Paralogue Annotation for RYR1 residue 1559

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1559
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1559

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	N1551S	Catecholaminergic polymorphic ventricular tachycar	High	8	23595086, 26332594

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	TANGKESNTFFQVEPNTKLFPAVFVLPTHQ>N<VIQFELGKQKNIMPLSAAMFQSERKNPAPQ	1589
RYR2	IANGKELSTYYQVEPSTKLFPAVFAQATSP>N<VFQFELGRIKNVMPLSAGLFKSEHKNPVPQ	1581
RYR3	SANGKELGTCYQVEPNTKVFPAVFLQPTST>S<LFQFELGKLKNAMPLSAAIFRSEEKNPVPQ	1485
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 1559 for RYR1.