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References from Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1. Local targets link to admitted publications; unresolved targets remain external evidence.
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Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy
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Unresolved reference
2017 · External reference
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Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels
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Utilizing multiple in silico analyses to identify putative causal scn5a variants in brugada syndrome
2014 · External reference
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
10.1016/j.hrthm.2009.09.069 · 2010 · External reference
SCN5A (NaV1.5) variant functional perturbation and clinical presentation: variants of a certain significance
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Predicting the functional impact of KCNQ1 variants of unknown significance
2017 · External reference
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10.1085/jgp.201411304 · External reference
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease
10.1002/humu.21302 · 2010 · External reference
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10.1038/gim.2015.30 · External reference
Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3
10.1161/circresaha.110.218891 · 2010 · External reference
Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients
10.1161/circulationaha.107.707877 · 2007 · External reference
Sodium channel mutations and arrhythmias
10.1038/nrcardio.2009.44 · 2009 · External reference
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Unresolved reference
1979 · External reference
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10.1529/biophysj.105.067165 · External reference
Structure of a eukaryotic voltage-gated sodium channel at near-atomic resolution
10.1126/science.aal4326 · 2017 · External reference
10.1016/j.ajhg.2018.01.017
10.1016/j.ajhg.2018.01.017 · External reference
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
10.1186/s12859-018-2010-z · 2018 · External reference
10.1016/j.str.2013.08.005
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Cryo-EM Structure of a KCNQ1/CaM complex reveals Insights into Congenital Long QT Syndrome
2017 · External reference
10.1016/s0008-6363(02)00445-5
10.1016/s0008-6363(02)00445-5 · External reference
Unresolved reference
2017 · External reference
High-throughput functional evaluation of KCNQ1 decrypts variants of unknown significance
10.1161/circgen.118.002345 · 2018 · External reference
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10.1016/j.gene.2015.08.062 · External reference
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10.1002/humu.22 · External reference
BCL::Score--knowledge based energy potentials for ranking protein models represented by idealized secondary structure elements
10.1371/journal.pone.0049242 · 2012 · External reference
Structure of the Nav1.4-beta1 complex from Electric Eel
2017 · External reference
