Paralogue Annotation for RYR1 residue 689

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 689
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 689

No paralogue variants have been mapped to residue 689 for RYR1.

RYR1	SKWYFEVMVDEVTPFLTAQATHLRVGWALT>E<GYTPYPGAGEGWGGNGVGDDLYSYGFDGLH	719
RYR2	KKWYYELMVDHTEPFVTAEATHLRVGWAST>E<GYSPYPGGGEEWGGNGVGDDLFSYGFDGLH	731
RYR3	KKWYFELIIDQVDPFLTAEPTHLRVGWASS>S<GYAPYPGGGEGWGGNGVGDDLYSYGFDGLH	718
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E689K	c.2065G>A	Putative Benign		rs144845360	SIFT: Polyphen: probably damaging