Paralogue Annotation for RYR2 residue 3879

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3879
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3879

No paralogue variants have been mapped to residue 3879 for RYR2.

RYR2	GHNSDFQNYLRTQTGNNTTVNIIISTVDYL>L<RVQESISDFYWYYSGKDVIDEQGQRNFSKA	3909
RYR1	GHNNDFQNYLRTQTGNTTTINIIICTVDYL>L<RLQESISDFYWYYSGKDVIEEQGKRNFSKA	3953
RYR3	GHNSDFQNFLRTQMGNTTTVNVIISTVDYL>L<RLQESISDFYWYYSGKDIIDESGQHNFSKA	3805
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3879P	c.11636T>C	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	CPVT	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
		Inherited Arrhythmia	CPVT	New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405
		Other Cardiac Phenotype		Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Circ Cardiovasc Genet. 2016 9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. 27114410