Article

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

2022-03-25

Abstract excerpt

Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. Consequently, therapeutic decision-making is challenging without molecular testing of each variant. Our biophysical knowledge of ion channel structures and function is just emerging, and it is currently not well understood which amino acid residues cause disease when mutated. We s...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 17ec5447-bf33-5d32-a12f-e93b13b82a39
DOI: 10.1101/2022.03.23.485339

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypesDOI 10.1101/2022.03.23.485339Read

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.Semantic proximity Read

Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptorsSemantic proximity Read

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genesSemantic proximity Read

Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium ChannelsSemantic proximity Read

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.Semantic proximity Read

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium ChannelsSemantic proximity Read

Structural mapping of patient-associated <i>KCNMA1</i> gene variantsSemantic proximity Read

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variantsSemantic proximity Read

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.Semantic proximity Read

Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCNSemantic proximity Read

Gene variant effects across sodium channelopathies predict function and guide precision therapy.Semantic proximity Read

Determinants of trafficking, conduction, and disease within a K <sup>+</sup> channel revealed through multiparametric deep mutational scanningSemantic proximity Read