Paralogue Annotation for RYR2 residue 2715

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2715
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2715

No paralogue variants have been mapped to residue 2715 for RYR2.

RYR2	YVSMMEKQSSMDSEGNFNPQPVDTSNITIP>E<KLEYFINKYAEHSHDKWSMDKLANGWIYGE	2745
RYR1	YSSKAEKKATVDAEGNFDPRPVETLNVIIP>E<KLDSFINKFAEYTHEKWAFDKIQNNWSYGE	2779
RYR3	ITATLEKQISVDADGNFDPKPINTMNFSLP>E<KLEYIVTKYAEHSHDKWACDKSQSGWKYGI	2642
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2715D	c.8145G>T	Putative Benign		rs200420897	SIFT: tolerated Polyphen: benign