Paralogue Annotation for RYR1 residue 284

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 284
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 284

No paralogue variants have been mapped to residue 284 for RYR1.

RYR1	HARSLWRLEPLRISWSGSHLRWGQPLRVRH>V<TTGQYLALTEDQGLVVVDASKAHTKATSFC	314
RYR2	HARSLWRLETLRVAWSGSHIRWGQPFRLRH>V<TTGKYLSLMEDKNLLLMDKEKADVKSTAFT	330
RYR3	RARSLWRVEPLRISWSGSNIRWGQAFRLRH>L<TTGHYLALTEDQGLILQDRAKSDTKSTAFS	319
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V284I	c.850G>A	Putative Benign		rs201388370	SIFT: Polyphen: benign