Paralogue Annotation for RYR2 residue 3759

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3759
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3759

No paralogue variants have been mapped to residue 3759 for RYR2.

RYR2	ARLHDRGAAEMVLQTISASKGETGPMVAAT>L<KLGIAILNGGNSTVQQKMLDYLKEKKDVGF	3789
RYR1	ARLHTRGAAEMVLQMISACKGETGAMVSST>L<KLGISILNGGNAEVQQKMLDYLKDKKEVGF	3827
RYR3	ARLHERGAAEMVLQMISASKGEMSPMVVET>L<KLGIAILNGGNAGVQQKMLDYLKEKKDAGF	3679
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3759M	c.11275C>A	Putative Benign			SIFT: Polyphen: