Paralogue Annotation for RYR1 residue 714

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 714
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 714

No paralogue variants have been mapped to residue 714 for RYR1.

RYR1	GWALTEGYTPYPGAGEGWGGNGVGDDLYSY>G<FDGLHLWTGHVARPVTSPGQHLLAPEDVIS	744
RYR2	GWASTEGYSPYPGGGEEWGGNGVGDDLFSY>G<FDGLHLWSGCIARTVSSPNQHLLRTDDVIS	756
RYR3	GWASSSGYAPYPGGGEGWGGNGVGDDLYSY>G<FDGLHLWSGRIPRAVASINQHLLRSDDVVS	743
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G714S	c.2140G>A	Putative Benign			SIFT: tolerated Polyphen: probably damaging