Annotation of functional impact of voltage-gated sodium channel mutations.

Hinard, Valérie; Britan, Aurore; Schaeffer, Mathieu; Zahn-Zabal, Monique; Thomet, Urs; Rougier, Jean-Sébastien; Bairoch, Amos; Abriel, Hugues; Gaudet, Pascale (2017). Annotation of functional impact of voltage-gated sodium channel mutations. Human mutation, 38(5), pp. 485-493. Wiley-Blackwell 10.1002/humu.23191

[img]
Preview
Text
Hinard_et_al-2017-Human_Mutation.pdf - Published Version
Available under License Creative Commons: Attribution (CC-BY).

Download (910kB) | Preview

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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten

04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Biochemistry and Molecular Medicine
04 Faculty of Medicine > Other Institutions > NCCR TransCure
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)

UniBE Contributor:

Thomet, Urs; Rougier, Jean-Sébastien and Abriel, Hugues

Subjects:

500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1059-7794

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Barbara Järmann-Bangerter

Date Deposited:

08 Mar 2018 12:02

Last Modified:

08 Mar 2018 12:02

Publisher DOI:

10.1002/humu.23191

PubMed ID:

28168870

Uncontrolled Keywords:

clinical interpretation of variants databases genetics variants pathogenicity phenotype voltage-gated sodium channel

BORIS DOI:

10.7892/boris.111377

URI:

https://boris.unibe.ch/id/eprint/111377

Actions (login required)

Edit item Edit item
Provide Feedback