Paralogue Annotation for RYR2 residue 2666

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2666
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2666

No paralogue variants have been mapped to residue 2666 for RYR2.

RYR2	EELHLSRKLFWGIFDALSQKKYEQELFKLA>L<PCLSAVAGALPPDYMESNYVSMMEKQSSMD	2696
RYR1	EELHLTRKLFWGIFDSLAHKKYDPELYRMA>M<PCLCAIAGALPPDYVDASYSSKAEKKATVD	2730
RYR3	EELHLTEKLFWGIFDSLSHKKYDPDLFRMA>L<PCLSAIAGALPPDYLDTRITATLEKQISVD	2593
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2666V	c.7996C>G	Putative Benign		rs370333448	SIFT: tolerated Polyphen: benign
p.L2666Q	c.7997T>A	Putative Benign			SIFT: Polyphen: