Paralogue Annotation for RYR1 residue 1032

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1032
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1032

No paralogue variants have been mapped to residue 1032 for RYR1.

RYR1	QGWSYSAVQDIPARRNPRLVPYRLLDEATK>R<SNRDSLCQAVRTLLGYGYNIEPPDQEP-SQ	1061
RYR2	QGWTYGIQQDVKNRRNPRLVPYTLLDDRTK>K<SNKDSLREAVRTLLGYGYNLEAPDQDHAAR	1074
RYR3	QGWTYGIQQDLKNKRNPRLVPYALLDERTK>K<SNRDSLREAVRTFVGYGYNIEPSDQEL-AD	1060
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1032H	c.3095G>A	Putative Benign		rs141942845	SIFT: Polyphen: probably damaging
p.R1032C	c.3094C>T	Putative Benign		rs374477216	SIFT: deleterious Polyphen: probably damaging