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SM2PH‐db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases
Author(s) -
Friedrich Anne,
Garnier Nicolas,
Gagnière Nicolas,
Nguyen Hoan,
Albou LaurentPhilippe,
Biancalana Valérie,
Bettler Emmanuel,
Deléage Gilbert,
Lecompte Odile,
Muller Jean,
Moras Dino,
Mandel JeanLouis,
Toursel Thierry,
Moulinier Luc,
Poch Olivier
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21155
Subject(s) - biology , missense mutation , hum , context (archaeology) , phenotype , computational biology , genetics , genotype phenotype distinction , gene , inference , computer science , artificial intelligence , paleontology , art , performance art , art history
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.