Paralogue Annotation for RYR2 residue 3757

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3757
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3757

No paralogue variants have been mapped to residue 3757 for RYR2.

RYR2	QQARLHDRGAAEMVLQTISASKGETGPMVA>A<TLKLGIAILNGGNSTVQQKMLDYLKEKKDV	3787
RYR1	QQARLHTRGAAEMVLQMISACKGETGAMVS>S<TLKLGISILNGGNAEVQQKMLDYLKDKKEV	3825
RYR3	QQARLHERGAAEMVLQMISASKGEMSPMVV>E<TLKLGIAILNGGNAGVQQKMLDYLKEKKDA	3677
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3757D	c.11270C>A	Putative Benign			SIFT: Polyphen: