Paralogue Annotation for RYR1 residue 3248

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3248
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3248

No paralogue variants have been mapped to residue 3248 for RYR1.

RYR1	VYTTKSPRERAILGLPNSVEEMCPDIPVLE>R<LMADIGGLAESGARYTEMPHVIEITLPMLC	3278
RYR2	IYNTKSSRERAALSLPTNVEDVCPNIPSLE>K<LMEEIVELAESGIRYTQMPHVMEVILPMLC	3243
RYR3	VFNTKTPRERSILGMPDTVEDMCPDIPQLE>G<LMKEINDLAESGARYTEMPHVIEVILPMLC	3139
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3248Q	c.9743G>A	Putative Benign			SIFT: tolerated Polyphen: benign
p.R3248W	c.9742C>T	Putative Benign			SIFT: Polyphen: