title: SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs.
abstract: Single nucleotide polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. However, the accumulated sequence information on allelic variation is not matched by an understanding of the effect of SNPs on the functional attributes or 'molecular phenotype' of a protein. Towards this aim we developed SNPeffect, an online resource of human non-synonymous coding SNPs (nsSNPs) mapping phenotypic effects of allelic variation in human genes. SNPeffect contains 31 659 nsSNPs from 12 480 human proteins. The current release of SNPeffect incorporates data on protein stability, integrity of functional sites, protein phosphorylation and glycosylation, subcellular localization, protein turnover rates, protein aggregation, amyloidosis and chaperone interaction. The SNP entries are accessible through both a search and browse interface and are linked to most major biological databases. The data can be displayed as detailed descriptions of individual SNPs or as an overview of all SNPs for a given protein. SNPeffect will be regularly updated and can be accessed at http://snpeffect.vib.be/.
authors.affiliation: SWITCH Laboratory, Flemish Interuniversity Institute for Biotechnology, Free University of Brussels, Pleinlaan 2, 1050 Brussels, Belgium.
authors.forename: Joke
authors.initials: J
authors.lastname: Reumers
authors.forename: Joost
authors.initials: J
authors.lastname: Schymkowitz
authors.forename: Jesper
authors.initials: J
authors.lastname: Ferkinghoff-Borg
authors.forename: Francois
authors.initials: F
authors.lastname: Stricher
authors.forename: Luis
authors.initials: L
authors.lastname: Serrano
authors.forename: Frederic
authors.initials: F
authors.lastname: Rousseau
mesh_terms: D000483:Alleles; D030541:Databases, Genetic; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D014584:User-Computer Interface
chemical_list: D011506:Proteins