Paralogue Annotation for RYR1 residue 3287

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3287
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3287

No paralogue variants have been mapped to residue 3287 for RYR1.

RYR1	AESGARYTEMPHVIEITLPMLCSYLPRWWE>R<GPEAPPSALPAGAPPPCTAVTSDHLNSLLG	3317
RYR2	AESGIRYTQMPHVMEVILPMLCSYMSRWWE>H<GPENNPE----RAEMCCTALNSEHMNTLLG	3278
RYR3	AESGARYTEMPHVIEVILPMLCNYLSYWWE>R<GPENLPP----STGPCCTKVTSEHLSLILG	3174
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3287C	c.9859C>T	Other Myopathy		rs201276068	SIFT: Polyphen: possibly damaging
p.R3287S	c.9859C>A	Putative Benign			SIFT: Polyphen:
p.R3287H	c.9860G>A	Putative Benign			SIFT: Polyphen:
p.R3287L	c.9860G>T	Putative Benign			SIFT: Polyphen: