Paralogue Annotation for RYR2 residue 329

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 329
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 329

No paralogue variants have been mapped to residue 329 for RYR2.

RYR2	HVTTGKYLSLMEDKNLLLMDKEKADVKSTA>F<TFRS---SKEKLDVGVRKEVDGMGTSEIKY	356
RYR1	HVTTGQYLALTEDQGLVVVDASKAHTKATS>F<CFRI---SKEKLDVAPKRDVEGMGPPEIKY	340
RYR3	HLTTGHYLALTEDQGLILQDRAKSDTKSTA>F<SFRASKELKEKLDSSHKRDIEGMGVPEIKY	348
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F329L	c.985T>C	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: benign
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	The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. Structure. 2013 21(8):1440-9. doi: 10.1016/j.str.2013.06.012. 23871484
		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