Paralogue Annotation for RYR1 residue 3331

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3331
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3331

No paralogue variants have been mapped to residue 3331 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3331K	c.9991G>A	Putative Benign			SIFT: Polyphen: