Paralogue Annotation for RYR2 residue 701

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 701
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 701

No paralogue variants have been mapped to residue 701 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E701Q	c.2101G>C	Putative Benign			SIFT: Polyphen:
p.Glu701Lys	c.2101G>A	Unknown			SIFT: Polyphen: