Paralogue Annotation for RYR1 residue 3259

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3259
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3259

No paralogue variants have been mapped to residue 3259 for RYR1.

RYR1	ILGLPNSVEEMCPDIPVLERLMADIGGLAE>S<GARYTEMPHVIEITLPMLCSYLPRWWERGP	3289
RYR2	ALSLPTNVEDVCPNIPSLEKLMEEIVELAE>S<GIRYTQMPHVMEVILPMLCSYMSRWWEHGP	3254
RYR3	ILGMPDTVEDMCPDIPQLEGLMKEINDLAE>S<GARYTEMPHVIEVILPMLCNYLSYWWERGP	3150
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3259A	c.9775T>G	Putative Benign			SIFT: Polyphen: