Paralogue Annotation for RYR1 residue 1820

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1820
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1820

No paralogue variants have been mapped to residue 1820 for RYR1.

RYR1	GAAEAPARLSPAIPLEALRDKALRMLGEAV>R<DGGQHARDPVGGSVEFQFVPVLKLVSTLLV	1850
RYR2	--SNECYQYSPEFPLDILKSKTIQMLTEAV>K<EGSLHARDPVGGTTEFLFVPLIKLFYTLLI	1830
RYR3	--GEDHQKQSPEIPLESLRTKALSMLTEAV>Q<CSGAHIRDPVGGSVEFQFVPVLKLIGTLLV	1734
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1820C	c.5458C>T	Putative Benign			SIFT: Polyphen:
p.R1820H	c.5459G>A	Putative Benign			SIFT: Polyphen: