Paralogue Annotation for RYR2 residue 1009

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1009
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1009

No paralogue variants have been mapped to residue 1009 for RYR2.

RYR2	APMDLSFIKLTPSQEAMVDKLAENAHNVWA>R<DRIRQGWTYGIQQDVKNRRNPRLVPYTLLD	1039
RYR1	APLDLSHVRLTPAQTTLVDRLAENGHNVWA>R<DRVGQGWSYSAVQDIPARRNPRLVPYRLLD	1027
RYR3	APLDLSDVKLLPPQEILVDKLAENAHNVWA>K<DRIKQGWTYGIQQDLKNKRNPRLVPYALLD	1026
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1009W	c.3025C>T	Putative Benign		rs368040638	SIFT: deleterious Polyphen: probably damaging
p.R1009Q	c.3026G>A	Putative Benign			SIFT: Polyphen: