Paralogue Annotation for RYR1 residue 2343

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2343
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2343

No paralogue variants have been mapped to residue 2343 for RYR1.

RYR1	LVAKGYPDIGWNPCGGERYLDFLRFAVFVN>G<ESVEENANVVVRLLIRKPECFGPALRGEGG	2373
RYR2	LVSKGYPDIGWNPVEGERYLDFLRFAVFCN>G<ESVEENANVVVRLLIRRPECFGPALRGEGG	2340
RYR3	LLAKGYPDVGWNPIEGERYLSFLRFAVFVN>S<ESVEENASVVVKLLIRRPECFGPALRGEGG	2237
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2343S	c.7027G>A	Putative Benign			SIFT: tolerated Polyphen: benign