Annotation of functional impact of voltage-gated sodium channel mutations

Hinard, Valérie; Britan, Aurore; Schaeffer, Mathieu; Zahn, Monique; Thomet, Urs; Rougier, Jean-Sébastien; Bairoch, Amos Marc; Abriel, Hugues; Gaudet, Pascale

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Title		Annotation of functional impact of voltage-gated sodium channel mutations
Authors		Hinard, Valérie Britan, Aurore Schaeffer, Mathieu Zahn, Monique Thomet, Urs Rougier, Jean-Sébastien Bairoch, Amos Marc Abriel, Hugues Gaudet, Pascale show all authors [1 - 9]
Published in		Human Mutation. 2017, vol. 38, no. 5, p. 485-493
Abstract		Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotransmission, skeletal muscle contraction, heart rhythm, and pain sensation. Genetic variations in the nine human genes encoding these channels are known to cause a large range of diseases affecting the nervous and cardiac systems. Understanding the molecular effect of genetic variations is critical for elucidating the pathologic mechanisms of known variations and in predicting the effect of newly discovered ones. To this end, we have created a Web-based tool, the Ion Channels Variants Portal, which compiles all variants characterized functionally in the human sodium channel genes. This portal describes 672 variants each associated with at least one molecular or clinical phenotypic impact, for a total of 4,658 observations extracted from 264 different research articles. These data were captured as structured annotations using standardized vocabularies and ontologies, such as the Gene Ontology and the Ion Channel ElectroPhysiology Ontology. All these data are available to the scientific community via neXtProt at https://www.nextprot.org/portals/navmut.
Identifiers		DOI: 10.1002/humu.23191 PMID: 28168870
Full text		Article (Published version) (896 Kb) - Free access
Structures		Faculté de médecine / Section de médecine fondamentale / Département de biologie structurale et bioinformatique
Research group		Calipho (80)
Citation (ISO format)		HINARD, Valérie et al. Annotation of functional impact of voltage-gated sodium channel mutations. In: Human Mutation, 2017, vol. 38, n° 5, p. 485-493. https://archive-ouverte.unige.ch/unige:93311