Paralogue Annotation for RYR1 residue 3116

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3116
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3116

No paralogue variants have been mapped to residue 3116 for RYR1.

RYR1	EIVKAGLRSFFESASEDIEKMVENLRLGKV>S<QARTQVKGVGQNLTYTTVALLPVLTTLFQH	3146
RYR2	ESVKSALRAFLDNAAEDLEKTMENLKQGQF>T<HTRNQPKGVTQIINYTTVALLPMLSSLFEH	3111
RYR3	ELVKAGLRAFFENAAEDLEKTSENLKLGKF>T<HSRTQIKGVSQNINYTTVALLPILTSIFEH	3007
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3116L	c.9347C>T	Putative Benign		rs200238436	SIFT: Polyphen: benign