Paralogue Annotation for RYR2 residue 3308

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3308
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3308

No paralogue variants have been mapped to residue 3308 for RYR2.

RYR2	GNILKIIYNNLGIDEGAWMKRLAVFSQPII>N<KVKPQLLKTHFLPLMEKLKKKAATVVSEED	3338
RYR1	GNILRIIVNNLGIDEASWMKRLAVFAQPIV>S<RARPELLQSHFIPTIGRLRKRAGKVVSEEE	3377
RYR3	GNILKIINNNLGIDEASWMKRIAVYAQPII>S<KARPDLLRSHFIPTLEKLKKKAVKTVQEEE	3234
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3308S	c.9923A>G	Putative Benign		rs201081663	SIFT: tolerated Polyphen: benign
Reports		Putative Benign		Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. BMC Med Genet. 2009 10:12. 19216760