Paralogue Annotation for RYR2 residue 3290

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3290
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3290

No paralogue variants have been mapped to residue 3290 for RYR2.

RYR2	RAEMCCTALNSEHMNTLLGNILKIIYNNLG>I<DEGAWMKRLAVFSQPIINKVKPQLLKTHFL	3320
RYR1	GAPPPCTAVTSDHLNSLLGNILRIIVNNLG>I<DEASWMKRLAVFAQPIVSRARPELLQSHFI	3359
RYR3	STGPCCTKVTSEHLSLILGNILKIINNNLG>I<DEASWMKRIAVYAQPIISKARPDLLRSHFI	3216
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3290F	c.9868A>T	Putative Benign			SIFT: Polyphen: