Paralogue Annotation for RYR1 residue 1022

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1022
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1022

No paralogue variants have been mapped to residue 1022 for RYR1.

RYR1	HNVWARDRVGQGWSYSAVQDIPARRNPRLV>P<YRLLDEATKRSNRDSLCQAVRTLLGYGYNI	1052
RYR2	HNVWARDRIRQGWTYGIQQDVKNRRNPRLV>P<YTLLDDRTKKSNKDSLREAVRTLLGYGYNL	1064
RYR3	HNVWAKDRIKQGWTYGIQQDLKNKRNPRLV>P<YALLDERTKKSNRDSLREAVRTFVGYGYNI	1051
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1022L	c.3065C>T	Putative Benign		rs144830213	SIFT: Polyphen: probably damaging