title: SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.
abstract: Understanding how genetic alterations affect gene products at the molecular level represents a first step in the elucidation of the complex relationships between genotypic and phenotypic variations, and is thus a major challenge in the postgenomic era. Here, we present SM2PH-db (http://decrypthon.igbmc.fr/sm2ph), a new database designed to investigate structural and functional impacts of missense mutations and their phenotypic effects in the context of human genetic diseases. A wealth of up-to-date interconnected information is provided for each of the 2,249 disease-related entry proteins (August 2009), including data retrieved from biological databases and data generated from a Sequence-Structure-Evolution Inference in Systems-based approach, such as multiple alignments, three-dimensional structural models, and multidimensional (physicochemical, functional, structural, and evolutionary) characterizations of mutations. SM2PH-db provides a robust infrastructure associated with interactive analysis tools supporting in-depth study and interpretation of the molecular consequences of mutations, with the more long-term goal of elucidating the chain of events leading from a molecular defect to its pathology. The entire content of SM2PH-db is regularly and automatically updated thanks to a computational grid data federation facilities provided in the context of the Decrypthon program.
authors.affiliation: Département de Biologie et Génomique Structurales, Institut de Génétique et de Biologie Moléculaire et Cellulaire (UMR7104), Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/Université de Strasbourg, Illkirch, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Friedrich
authors.forename: Nicolas
authors.initials: N
authors.lastname: Garnier
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gagnière
authors.forename: Hoan
authors.initials: H
authors.lastname: Nguyen
authors.forename: Laurent-Philippe
authors.initials: LP
authors.lastname: Albou
authors.forename: Valérie
authors.initials: V
authors.lastname: Biancalana
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Bettler
authors.forename: Gilbert
authors.initials: G
authors.lastname: Deléage
authors.forename: Odile
authors.initials: O
authors.lastname: Lecompte
authors.forename: Jean
authors.initials: J
authors.lastname: Muller
authors.forename: Dino
authors.initials: D
authors.lastname: Moras
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Mandel
authors.forename: Thierry
authors.initials: T
authors.lastname: Toursel
authors.forename: Luc
authors.initials: L
authors.lastname: Moulinier
authors.forename: Olivier
authors.initials: O
authors.lastname: Poch
mesh_terms: D030562:Databases, Protein; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D020407:Internet; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D011506:Proteins; D012984:Software; D014584:User-Computer Interface
chemical_list: D011506:Proteins