The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants

Article Article scientifique Article The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants eng 2004 author Yip Sonderegger Yum Lina 134952 author Scheib Holger 594945 author Diemand Alexander 514045 author Gattiker Alexandre 505076 author Famiglietti Michel Maria Liva 639272 author Gasteiger Elisabeth 101626 author Bairoch Amos Marc 0000-0003-2826-6444 21964 464-470 10.1002/humu.20021 15108278 1059-7794 Missense mutation leading to single amino acid polymorphism (SAP) is the type of mutation most frequently related to human diseases. The Swiss-Prot protein knowledgebase records information on such mutations in various sections of a protein entry, namely in the "feature," "comment," and "reference" fields. To facilitate users in obtaining the most relevant information about each human SAP recorded in the knowledgebase, the Swiss-Prot Variant web pages were created to provide a summary of available sequence information, as well as additional structural information on each variant. In particular, the ModSNP database was set up to store information related to SAPs and to manage the modeling of SAPs onto protein structures via an automatic homology modeling pipeline. Currently, among the 16,566 human SAPs recorded in the Swiss-Prot knowledgebase (release 42.5, 21 November 2003), more than 25% have corresponding 3D-models. Of these variants, 47% are related to disease, 26% are polymorphisms, and 27% are not yet clearly classified. The ModSNP database is updated and the subsequent model construction pipeline is launched with each weekly Swiss-Prot release. Thus, the ModSNP database represents a valuable resource for the structural analysis of protein variation. The Swiss-Prot variant pages are accessible from the NiceProt view of a Swiss-Prot entry on the ExPASy server (www.expasy.org/), via a hyperlink created for the stable and unique identifier FTId of each human SAP. Amino Acid Substitution Databases, Protein/statistics & numerical data/trends Genetic Variation Humans Internet Mutation, Missense Polymorphism, Genetic Proteins/chemistry/genetics Sequence Analysis, Protein Structural Homology, Protein Dewey 576 136 Département de biologie structurale et bioinformatique 21E false 283ea908-4a0f-403e-afca-454333963c49 Swiss-Prot Research Group 405b9ec3-ed88-49e8-9c17-4f861cf66d82 Swiss Institute of Bioinformatics (SIB) 57 Calipho 80 Human mutation 23 5 32ca9cc4-e2d7-4a13-8653-04b2ecc20cb8 Article (Published version) Restricted pub_133_15108278.pdf 318262 application/pdf restrictedAccess Faculté de médecine / Section de médecine fondamentale / Département de biologie structurale et bioinformatique

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The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants	Human mutation			2004	615	0

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Diemand, Alexander