Paralogue Annotation for RYR1 residue 3258

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3258
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3258

No paralogue variants have been mapped to residue 3258 for RYR1.

RYR1	AILGLPNSVEEMCPDIPVLERLMADIGGLA>E<SGARYTEMPHVIEITLPMLCSYLPRWWERG	3288
RYR2	AALSLPTNVEDVCPNIPSLEKLMEEIVELA>E<SGIRYTQMPHVMEVILPMLCSYMSRWWEHG	3253
RYR3	SILGMPDTVEDMCPDIPQLEGLMKEINDLA>E<SGARYTEMPHVIEVILPMLCNYLSYWWERG	3149
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3258K	c.9772G>A	Putative Benign			SIFT: Polyphen: