Paralogue Annotation for RYR2 residue 4625

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4625
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4625

No paralogue variants have been mapped to residue 4625 for RYR2.

RYR2	VPLVIFKREKEVARKLEFDGLYITEQPSED>D<IKGQWDRLVINTQSFPNNYWDKFVKRKVMD	4655
RYR1	VPLVIFKREKELARKLEFDGLYITEQPEDD>D<VKGQWDRLVLNTPSFPSNYWDKFVKRKVLD	4727
RYR3	VPLVVFKREKEIARKLEFDGLYITEQPSED>D<IKGQWDRLVINTPSFPNNYWDKFVKRKVIN	4560
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4625E	c.13875T>G	Putative Benign		rs375350387	SIFT: deleterious Polyphen: possibly damaging