Paralogue Annotation for RYR2 residue 4298

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4298
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4298

No paralogue variants have been mapped to residue 4298 for RYR2.

RYR2	MKKVKKMTVKDMVTAFFSSYWSIFMTLLHF>V<ASVFRGFFRIICSLLLGGSLVEGAKKIKVA	4328
RYR1	VRRLRRLTAREAATAVAALLWAAVTRAGAA>G<AGAAAGALGLLWGSLFGGGLVEGAKKVTVT	4377
RYR3	YRNVKKMTAKELVKVLFSFFWMLFVGLFQL>L<FTILGGIFQILWSTVFGGGLVEGAKNIRVT	4229
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4298M	c.12892G>A	Inherited Arrhythmia	LQTS		SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS. Int J Cardiol. 2011 146(2):249-50. 21126784