Paralogue Annotation for RYR1 residue 699

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 699
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 699

No paralogue variants have been mapped to residue 699 for RYR1.

RYR1	EVTPFLTAQATHLRVGWALTEGYTPYPGAG>E<GWGGNGVGDDLYSYGFDGLHLWTGHVARPV	729
RYR2	HTEPFVTAEATHLRVGWASTEGYSPYPGGG>E<EWGGNGVGDDLFSYGFDGLHLWSGCIARTV	741
RYR3	QVDPFLTAEPTHLRVGWASSSGYAPYPGGG>E<GWGGNGVGDDLYSYGFDGLHLWSGRIPRAV	728
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E699K	c.2095G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging