Paralogue Annotation for RYR1 residue 703

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 703
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 703

No paralogue variants have been mapped to residue 703 for RYR1.

RYR1	FLTAQATHLRVGWALTEGYTPYPGAGEGWG>G<NGVGDDLYSYGFDGLHLWTGHVARPVTSPG	733
RYR2	FVTAEATHLRVGWASTEGYSPYPGGGEEWG>G<NGVGDDLFSYGFDGLHLWSGCIARTVSSPN	745
RYR3	FLTAEPTHLRVGWASSSGYAPYPGGGEGWG>G<NGVGDDLYSYGFDGLHLWSGRIPRAVASIN	732
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G703S	c.2107G>A	Putative Benign			SIFT: Polyphen: