Paralogue Annotation for RYR1 residue 1024

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1024
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1024

No paralogue variants have been mapped to residue 1024 for RYR1.

RYR1	VWARDRVGQGWSYSAVQDIPARRNPRLVPY>R<LLDEATKRSNRDSLCQAVRTLLGYGYNIEP	1054
RYR2	VWARDRIRQGWTYGIQQDVKNRRNPRLVPY>T<LLDDRTKKSNKDSLREAVRTLLGYGYNLEA	1066
RYR3	VWAKDRIKQGWTYGIQQDLKNKRNPRLVPY>A<LLDERTKKSNRDSLREAVRTFVGYGYNIEP	1053
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1024H	c.3071G>A	Putative Benign		rs148146893	SIFT: Polyphen: benign
p.R1024S	c.3070C>A	Putative Benign			SIFT: Polyphen: