Paralogue Annotation for RYR2 residue 403

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 403
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 403

No paralogue variants have been mapped to residue 403 for RYR2.

RYR2	TYQSVDVKSVRMGSIQRKAIMHHEGHMDDG>I<SLSRSQHEESRTARVIRSTVFLFNRFIRGL	433
RYR1	TYAAPDPKALRLGVLKKKAMLHQEGHMDDA>L<SLTRCQQEESQAARMIHSTNGLYNQFIKSL	417
RYR3	TYKAQDAKTSRLGPLKRKVILHQEGHMDDG>L<TLQRCQREESQAARIIRNTTALFSQFVSGN	425
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I403V	c.1207A>G	Putative Benign		rs142797573	SIFT: deleterious Polyphen: benign
p.I403L	c.1207A>C	Putative Benign			SIFT: tolerated Polyphen: benign