Paralogue Annotation for RYR1 residue 3217

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3217
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3217

No paralogue variants have been mapped to residue 3217 for RYR1.

RYR1	RPALGECLARLAAAMPVAFLEPQLNEYNAC>S<VYTTKSPRERAILGLPNSVEEMCPDIPVLE	3247
RYR2	RSALGECLAAFAGAFPVAFLETHLDKHNIY>S<IYNTKSSRERAALSLPTNVEDVCPNIPSLE	3212
RYR3	RPALGECLASLAAAIPVAFLEPTLNRYNPL>S<VFNTKTPRERSILGMPDTVEDMCPDIPQLE	3108
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3217P	c.9649T>C	Other Myopathy		rs113422327	SIFT: Polyphen:
Reports		Other Myopathy		Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329