Paralogue Annotation for RYR1 residue 3166

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3166
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3166

No paralogue variants have been mapped to residue 3166 for RYR1.

RYR1	LLPVLTTLFQHIAQHQFGDDVILDDVQVSC>Y<RTLCSIYSLGTTKNTYVEKLRPALGECLAR	3196
RYR2	LLPMLSSLFEHIGQHQFGEDLILEDVQVSC>Y<RILTSLYALGTSKSIYVERQRSALGECLAA	3161
RYR3	LLPILTSIFEHVTQHQFGMDLLLGDVQISC>Y<HILCSLYSLGTGKNIYVERQRPALGECLAS	3057
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y3166H	c.9496T>C	Putative Benign			SIFT: Polyphen: