Paralogue Annotation for RYR2 residue 4564

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4564
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4564

No paralogue variants have been mapped to residue 4564 for RYR2.

RYR2	ENAK-VTSLDS-----SSHRIIAVHYVLEE>S<SGYMEPTLRILAILHTVISFFCIIGYYCLK	4594
RYR1	GGSSGW-GLGAGEEAEGDEDENMVYYFLEE>S<TGYMEPALRCLSLLHTLVAFLCIIGYNCLK	4666
RYR3	-------SFND-----EEEEEAMVFFVLQE>S<TGYMAPTLRALAIIHTIISLVCVVGYYCLK	4499
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4564G	c.13690A>G	Putative Benign			SIFT: Polyphen: