Paralogue Annotation for RYR2 residue 4594

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4594
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4594

No paralogue variants have been mapped to residue 4594 for RYR2.

RYR2	SSGYMEPTLRILAILHTVISFFCIIGYYCL>K<VPLVIFKREKEVARKLEFDGLYITEQPSED	4624
RYR1	STGYMEPALRCLSLLHTLVAFLCIIGYNCL>K<VPLVIFKREKELARKLEFDGLYITEQPEDD	4696
RYR3	STGYMAPTLRALAIIHTIISLVCVVGYYCL>K<VPLVVFKREKEIARKLEFDGLYITEQPSED	4529
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4594R	c.13781A>G	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation. Pediatr Cardiol. 2014 24950728
p.K4594Q	c.13780A>C	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555