No paralogue variants have been mapped to residue 1686 for RYR2.
RYR2 | HTLRLYSAVCALGNHRVAHALCSHVDEPQL>L<YAIENKYMPGLLRAGYYDLLIDIHLSSYAT | 1716 |
RYR1 | HTLRLYRAVCALGNNRVAHALCSHVDQAQL>L<HALEDAHLPGPLRAGYYDLLISIHLESACR | 1724 |
RYR3 | HTLRLYSAVCALGNSRVAYALCSHVDLSQL>F<YAIDNKYLPGLLRSGFYDLLISIHLASAKE | 1620 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1686F | c.5056C>T | Inherited Arrhythmia | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | BrS | Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PLoS One. 2015 10(7):e0133037. doi: 10.1371/journal.pone.0133037. 26230511 |