Fiche publication
Date publication
février 2010
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis
,
Dr MORAS Dino
,
Dr POCH Olivier
Tous les auteurs :
Friedrich A, Garnier N, Gagniere N, Nguyen H, Albou LP, Biancalana V, Bettler E, Deleage G, Lecompte O, Muller J, Moras D, Mandel JL, Toursel T, Moulinier L, Poch O
Lien Pubmed
Résumé
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.
Référence
Hum Mutat. 2010 Feb;31(2):127-35.
