Paralogue Annotation for RYR2 residue 4392

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4392
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4392

No paralogue variants have been mapped to residue 4392 for RYR2.

RYR2	KELTEESDLLSD-----IFGLDLKREGGQY>K<LIPHNPNAGLSDLMSN-PVPMPE-V-QEKF	4419
RYR1	EGAGDEEEAVHEAGPGGADGAVAVTDGGPF>R<PEGAGGLGDMGDTTPAEPPTPEGSP-ILKR	4476
RYR3	KGEKGDTDIMSD-----LFGLHPKKEGS-L>K<HGPEVGLGDLSEIIGKDEPPTLESTVQKKR	4323
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4392R	c.13175A>G	Inherited Arrhythmia			SIFT: Polyphen:
Reports		Inherited Arrhythmia	CPVT	A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia. Heart Vessels. 2014 25092222