Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May, Epi25 Collaborative, Katrine M. Johannesen, Stephan Lauxmann, Johannes R. Lemke, Rikke S. Møller, Eduardo Pérez‐Palma, Ute I. Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J. Campbell, Hao‐Ran Wang, Jen Q. Pan, Mark J. Daly
Abstract
A machine learning method can predict loss- versus gain-of-function effects of human genetic variants in disease-associated ion channels.
Topics & Concepts
Missense mutationCalciumSodium channelSodiumVoltage-dependent calcium channelChemistryBiophysicsBiologyMedicineMutationBiochemistryInternal medicineGeneOrganic chemistryRNA and protein synthesis mechanismsCardiac electrophysiology and arrhythmiasIon channel regulation and function