Paralogue Annotation for RYR1 residue 282

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 282
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 282

No paralogue variants have been mapped to residue 282 for RYR1.

RYR1	CTHARSLWRLEPLRISWSGSHLRWGQPLRV>R<HVTTGQYLALTEDQGLVVVDASKAHTKATS	312
RYR2	SVHARSLWRLETLRVAWSGSHIRWGQPFRL>R<HVTTGKYLSLMEDKNLLLMDKEKADVKSTA	328
RYR3	GTRARSLWRVEPLRISWSGSNIRWGQAFRL>R<HLTTGHYLALTEDQGLILQDRAKSDTKSTA	317
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R282Q	c.845G>A	Putative Benign		rs201164249	SIFT: Polyphen: probably damaging