Paralogue Annotation for RYR1 residue 4564

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4564
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4564

No paralogue variants have been mapped to residue 4564 for RYR1.

RYR1	KEEAGGEFWGELEVQRVKFLNYLSRNFYTL>R<FLALFLAFAINFILLFYKVSDSPPGEDDME	4594
RYR2	PEVPESAFWKKIIAYQQKLLNYFARNFYNM>R<MLALFVAFAINFILLFYKVSTSSVVEGKE-	4532
RYR3	PEAFTANFFKGLEIYQTKLLHYLARNFYNL>R<FLALFVAFAINFILLFYKVTEEPLEEETE-	4443
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4564W	c.13690C>T	Putative Benign			SIFT: Polyphen:
p.Arg4564Gln	c.13691G>A	Unknown			SIFT: Polyphen: