Literature DB >> 17924574

GPCR NaVa database: natural variants in human G protein-coupled receptors.

Jeroen Kazius1, Kerstin Wurdinger, Maarten van Iterson, Joost Kok, Thomas Bäck, Ad P Ijzerman.   

Abstract

The superfamily of human G protein-coupled receptors (GPCRs) is large and regulates a plethora of important physiological processes by transducing extracellular signals over cell membranes. A diversity of natural variants occurs in these receptors, including rare mutations and common polymorphisms. These variants differ in their impact on DNA, ranging from single nucleotide polymorphisms (SNPs) to copy number variants, and in their impact on protein function. Natural variants furthermore vary in their effects on human phenotypes from neutral to disease-associated. As mutation data are highly dispersed over numerous sources, a single resource for variants would aid investigators of GPCRs. The GPCR NaVa database therefore integrates data on natural variants in human GPCRs from online databases, the scientific literature, and patents. Where available, variants contain information on their location in the DNA (and protein sequence), the involved nucleotides (and amino acids), the average frequency of each allele, reported disease associations, and references to public databases and the scientific literature. The GPCR NaVa database aims to facilitate studies into pharmacogenetics, genotype-phenotype, and structure-function relationships of GPCRs. The GPCR NaVa database is interlinked with the family-specific GPCRDB resource and is accessible as a stand-alone database through a user-friendly website at http://nava.liacs.nl (last accessed 28 August 2007). (c) 2007 Wiley-Liss, Inc.

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Year:  2008        PMID: 17924574     DOI: 10.1002/humu.20638

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  19 in total

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Review 2.  The genetic and evolutionary basis of colour variation in vertebrates.

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Journal:  Cell Mol Life Sci       Date:  2010-03-14       Impact factor: 9.261

Review 3.  Cellular signalling of non-synonymous single-nucleotide polymorphisms of the human μ-opioid receptor (OPRM1).

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Journal:  Br J Pharmacol       Date:  2014-07-01       Impact factor: 8.739

Review 4.  Chaperoning G protein-coupled receptors: from cell biology to therapeutics.

Authors:  Ya-Xiong Tao; P Michael Conn
Journal:  Endocr Rev       Date:  2014-03-24       Impact factor: 19.871

Review 5.  Minireview: Toward the establishment of a link between melatonin and glucose homeostasis: association of melatonin MT2 receptor variants with type 2 diabetes.

Authors:  Angeliki Karamitri; Nicolas Renault; Nathalie Clement; Jean-Luc Guillaume; Ralf Jockers
Journal:  Mol Endocrinol       Date:  2013-06-24

6.  The μ-opioid receptor variant N190K is unresponsive to peptide agonists yet can be rescued by small-molecule drugs.

Authors:  Jean-Philippe Fortin; Lei Ci; Jonathan Schroeder; Carmit Goldstein; Maria Claudia Montefusco; Inga Peter; Steven E Reis; Gordon S Huggins; Martin Beinborn; Alan S Kopin
Journal:  Mol Pharmacol       Date:  2010-08-11       Impact factor: 4.436

7.  Using sequence similarity networks for visualization of relationships across diverse protein superfamilies.

Authors:  Holly J Atkinson; John H Morris; Thomas E Ferrin; Patricia C Babbitt
Journal:  PLoS One       Date:  2009-02-03       Impact factor: 3.240

8.  Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.

Authors:  Rainer Winnenburg; Conrad Plake; Michael Schroeder
Journal:  BMC Bioinformatics       Date:  2009-08-27       Impact factor: 3.169

9.  The action and mode of binding of thiazolidinedione ligands at free fatty acid receptor 1.

Authors:  Nicola J Smith; Leigh A Stoddart; Nicola M Devine; Laura Jenkins; Graeme Milligan
Journal:  J Biol Chem       Date:  2009-04-27       Impact factor: 5.157

10.  Pharmacological characterization of human incretin receptor missense variants.

Authors:  Jean-Philippe Fortin; Jonathan C Schroeder; Yuantee Zhu; Martin Beinborn; Alan S Kopin
Journal:  J Pharmacol Exp Ther       Date:  2009-10-19       Impact factor: 4.030

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