Paralogue Annotation for RYR2 residue 3292

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3292
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3292

No paralogue variants have been mapped to residue 3292 for RYR2.

RYR2	EMCCTALNSEHMNTLLGNILKIIYNNLGID>E<GAWMKRLAVFSQPIINKVKPQLLKTHFLPL	3322
RYR1	PPPCTAVTSDHLNSLLGNILRIIVNNLGID>E<ASWMKRLAVFAQPIVSRARPELLQSHFIPT	3361
RYR3	GPCCTKVTSEHLSLILGNILKIINNNLGID>E<ASWMKRIAVYAQPIISKARPDLLRSHFIPT	3218
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3292K	c.9874G>A	Putative Benign			SIFT: tolerated Polyphen: benign