title: Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.
abstract: Although mutation analysis serves as a key part in making a definitive diagnosis about a genetic disease, it still remains a time-consuming step to interpret their biological implications through integration of various lines of archived information about genes in question. To expedite this evaluation step of disease-causing genetic variations, here we developed Mutation@A Glance (http://rapid.rcai.riken.jp/mutation/), a highly integrated web-based analysis tool for analysing human disease mutations; it implements a user-friendly graphical interface to visualize about 40,000 known disease-associated mutations and genetic polymorphisms from more than 2600 protein-coding human disease-causing genes. Mutation@A Glance locates already known genetic variation data individually on the nucleotide and the amino acid sequences and makes it possible to cross-reference them with tertiary and/or quaternary protein structures and various functional features associated with specific amino acid residues in the proteins. We showed that the disease-associated missense mutations had a stronger tendency to reside in positions relevant to the structure/function of proteins than neutral genetic variations. From a practical viewpoint, Mutation@A Glance could certainly function as a 'one-stop' analysis platform for newly determined DNA sequences, which enables us to readily identify and evaluate new genetic variations by integrating multiple lines of information about the disease-causing candidate genes.
authors.affiliation: Laboratory for Immunogenomics, RIKEN Research Center for Allergy and Immunology, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hijikata
authors.forename: Rajesh
authors.initials: R
authors.lastname: Raju
authors.forename: Shivakumar
authors.initials: S
authors.lastname: Keerthikumar
authors.forename: Subhashri
authors.initials: S
authors.lastname: Ramabadran
authors.forename: Lavanya
authors.initials: L
authors.lastname: Balakrishnan
authors.forename: Suresh Kumar
authors.initials: SK
authors.lastname: Ramadoss
authors.forename: Akhilesh
authors.initials: A
authors.lastname: Pandey
authors.forename: Sujatha
authors.initials: S
authors.lastname: Mohan
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
mesh_terms: D019295:Computational Biology; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins