Paralogue Annotation for RYR1 residue 1019

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1019
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1019

No paralogue variants have been mapped to residue 1019 for RYR1.

RYR1	ENGHNVWARDRVGQGWSYSAVQDIPARRNP>R<LVPYRLLDEATKRSNRDSLCQAVRTLLGYG	1049
RYR2	ENAHNVWARDRIRQGWTYGIQQDVKNRRNP>R<LVPYTLLDDRTKKSNKDSLREAVRTLLGYG	1061
RYR3	ENAHNVWAKDRIKQGWTYGIQQDLKNKRNP>R<LVPYALLDERTKKSNRDSLREAVRTFVGYG	1048
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1019W	c.3055C>T	Putative Benign			SIFT: Polyphen:
p.R1019Q	c.3056G>A	Putative Benign			SIFT: Polyphen: