Paralogue Annotation for RYR2 residue 694

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 694
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 694

No paralogue variants have been mapped to residue 694 for RYR2.

RYR2	SEGSAQYKKWYYELMVDHTEPFVTAEATHL>R<VGWASTEGYSPYPGGGEEWGGNGVGDDLFS	724
RYR1	AEGTTQYSKWYFEVMVDEVTPFLTAQATHL>R<VGWALTEGYTPYPGAGEGWGGNGVGDDLYS	712
RYR3	AEGSAQYKKWYFELIIDQVDPFLTAEPTHL>R<VGWASSSGYAPYPGGGEGWGGNGVGDDLYS	711
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R694Q	c.2081G>A	Benign		rs190787113	SIFT: deleterious Polyphen: probably damaging