Paralogue Annotation for RYR1 residue 4674

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4674
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4674

No paralogue variants have been mapped to residue 4674 for RYR1.

RYR1	LRCLSLLHTLVAFLCIIGYNCLKVPLVIFK>R<EKELARKLEFDGLYITEQPEDDDVKGQWDR	4704
RYR2	LRILAILHTVISFFCIIGYYCLKVPLVIFK>R<EKEVARKLEFDGLYITEQPSEDDIKGQWDR	4632
RYR3	LRALAIIHTIISLVCVVGYYCLKVPLVVFK>R<EKEIARKLEFDGLYITEQPSEDDIKGQWDR	4537
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4674W	c.14020C>T	Putative Benign			SIFT: Polyphen: