Paralogue Annotation for RYR2 residue 4622

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4622
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4622

No paralogue variants have been mapped to residue 4622 for RYR2.

RYR2	CLKVPLVIFKREKEVARKLEFDGLYITEQP>S<EDDIKGQWDRLVINTQSFPNNYWDKFVKRK	4652
RYR1	CLKVPLVIFKREKELARKLEFDGLYITEQP>E<DDDVKGQWDRLVLNTPSFPSNYWDKFVKRK	4724
RYR3	CLKVPLVVFKREKEIARKLEFDGLYITEQP>S<EDDIKGQWDRLVINTPSFPNNYWDKFVKRK	4557
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4622L	c.13865C>T	Putative Benign			SIFT: Polyphen: