Paralogue Annotation for RYR2 residue 3337

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3337
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3337

No paralogue variants have been mapped to residue 3337 for RYR2.

RYR2	INKVKPQLLKTHFLPLMEKLKKKAATVVSE>E<DHLKAEARGDMSEAELLILDEFTTLARDLY	3367
RYR1	VSRARPELLQSHFIPTIGRLRKRAGKVVSE>E<EQLRLEAKAEAQEGELLVRDEFSVLCRDLY	3406
RYR3	ISKARPDLLRSHFIPTLEKLKKKAVKTVQE>E<EQLKADGKGDTQEAELLILDEFAVLCRDLY	3263
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3337K	c.10009G>A	Putative Benign			SIFT: Polyphen: