Paralogue Annotation for RYR2 residue 1686

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1686
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1686

No paralogue variants have been mapped to residue 1686 for RYR2.



RYR2HTLRLYSAVCALGNHRVAHALCSHVDEPQL>L<YAIENKYMPGLLRAGYYDLLIDIHLSSYAT1716
RYR1HTLRLYRAVCALGNNRVAHALCSHVDQAQL>L<HALEDAHLPGPLRAGYYDLLISIHLESACR1724
RYR3HTLRLYSAVCALGNSRVAYALCSHVDLSQL>F<YAIDNKYLPGLLRSGFYDLLISIHLASAKE1620
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1686Fc.5056C>T Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS 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