Paralogue Annotation for RYR1 residue 1028

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1028
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1028

No paralogue variants have been mapped to residue 1028 for RYR1.

RYR1	DRVGQGWSYSAVQDIPARRNPRLVPYRLLD>E<ATKRSNRDSLCQAVRTLLGYGYNIEPPDQE	1058
RYR2	DRIRQGWTYGIQQDVKNRRNPRLVPYTLLD>D<RTKKSNKDSLREAVRTLLGYGYNLEAPDQD	1070
RYR3	DRIKQGWTYGIQQDLKNKRNPRLVPYALLD>E<RTKKSNRDSLREAVRTFVGYGYNIEPSDQE	1057
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1028D	c.3084A>C	Putative Benign			SIFT: Polyphen: