Paralogue Annotation for RYR2 residue 377

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 377
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 377

No paralogue variants have been mapped to residue 377 for RYR2.

RYR2	DGMGTSEIKYGDSVCYIQHVDTGLWLTYQS>V<DVKSVRMGSIQRKAIMHHEGHMDDGISLSR	407
RYR1	EGMGPPEIKYGESLCFVQHVASGLWLTYAA>P<DPKALRLGVLKKKAMLHQEGHMDDALSLTR	391
RYR3	EGMGVPEIKYGDSVCFVQHIASGLWVTYKA>Q<DAKTSRLGPLKRKVILHQEGHMDDGLTLQR	399
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V377M	c.1129G>A	Benign			SIFT: tolerated Polyphen: benign
Reports		Benign		The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015