Paralogue Annotation for RYR1 residue 1694

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1694
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1694

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	L1686F	Brugada syndrome	High	9	26230511

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	HTLRLYRAVCALGNNRVAHALCSHVDQAQL>L<HALEDAHLPGPLRAGYYDLLISIHLESACR	1724
RYR2	HTLRLYSAVCALGNHRVAHALCSHVDEPQL>L<YAIENKYMPGLLRAGYYDLLIDIHLSSYAT	1716
RYR3	HTLRLYSAVCALGNSRVAYALCSHVDLSQL>F<YAIDNKYLPGLLRSGFYDLLISIHLASAKE	1620
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 1694 for RYR1.