Paralogue Annotation for RYR1 residue 1821

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1821
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1821

No paralogue variants have been mapped to residue 1821 for RYR1.

RYR1	AAEAPARLSPAIPLEALRDKALRMLGEAVR>D<GGQHARDPVGGSVEFQFVPVLKLVSTLLVM	1851
RYR2	-SNECYQYSPEFPLDILKSKTIQMLTEAVK>E<GSLHARDPVGGTTEFLFVPLIKLFYTLLIM	1831
RYR3	-GEDHQKQSPEIPLESLRTKALSMLTEAVQ>C<SGAHIRDPVGGSVEFQFVPVLKLIGTLLVM	1735
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1821Y	c.5461G>T	Putative Benign		rs139709595	SIFT: Polyphen: probably damaging
p.D1821N	c.5461G>A	Putative Benign			SIFT: Polyphen: