Paralogue Annotation for RYR1 residue 1783

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1783
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1783

No paralogue variants have been mapped to residue 1783 for RYR1.

RYR1	TENGHPRHGLPGVGVTTSLRPPHHFSPPCF>V<AALPAAGAAEAPARLSPAIPLEALRDKALR	1813
RYR2	---ENKKHGLPGIGLSTSLRPRMQFSSPSF>V<SI------SNECYQYSPEFPLDILKSKTIQ	1793
RYR3	---ESKRHGLPGVGLRTCLKPGFRFSTPCF>V<VT------GEDHQKQSPEIPLESLRTKALS	1697
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1783M	c.5347G>A	Putative Benign		rs375160141	SIFT: tolerated Polyphen: probably damaging
p.V1783L	c.5347G>T	Putative Benign			SIFT: Polyphen: