Paralogue Annotation for RYR2 residue 3336

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3336
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3336

No paralogue variants have been mapped to residue 3336 for RYR2.

RYR2	IINKVKPQLLKTHFLPLMEKLKKKAATVVS>E<EDHLKAEARGDMSEAELLILDEFTTLARDL	3366
RYR1	IVSRARPELLQSHFIPTIGRLRKRAGKVVS>E<EEQLRLEAKAEAQEGELLVRDEFSVLCRDL	3405
RYR3	IISKARPDLLRSHFIPTLEKLKKKAVKTVQ>E<EEQLKADGKGDTQEAELLILDEFAVLCRDL	3262
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3336A	c.10007A>C	Putative Benign			SIFT: Polyphen: