Paralogue Annotation for RYR2 residue 2607

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2607
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2607

No paralogue variants have been mapped to residue 2607 for RYR2.

RYR2	CGQLRPSMMQHLLRRLVFDVPLLNEHAKMP>L<KLLTNHYERCWKYYCLPGGWGNFGAASEEE	2637
RYR1	CRYIRPSMLQHLLRRLVFDVPILNEFAKMP>L<KLLTNHYERCWKYYCLPTGWANFGVTSEEE	2671
RYR3	CNHLRPSMLQQLLRRLVFDVPQLNEYCKMP>L<KLLTNHYEQCWKYYCLPSGWGSYGLAVEEE	2534
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2607P	c.7820T>C	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J. 2013 13(4):325-9. doi: 10.1038/tpj.2012.14. 22584458