Paralogue Annotation for RYR1 residue 4667

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4667
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4667

No paralogue variants have been mapped to residue 4667 for RYR1.

RYR1	TGYMEPALRCLSLLHTLVAFLCIIGYNCLK>V<PLVIFKREKELARKLEFDGLYITEQPEDDD	4697
RYR2	SGYMEPTLRILAILHTVISFFCIIGYYCLK>V<PLVIFKREKEVARKLEFDGLYITEQPSEDD	4625
RYR3	TGYMAPTLRALAIIHTIISLVCVVGYYCLK>V<PLVVFKREKEIARKLEFDGLYITEQPSEDD	4530
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4667L	c.13999G>C	Putative Benign			SIFT: Polyphen: