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- Title
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.
- Authors
Hijikata, Atsushi; Raju, Rajesh; Keerthikumar, Shivakumar; Ramabadran, Subhashri; Balakrishnan, Lavanya; Ramadoss, Suresh Kumar; Pandey, Akhilesh; Mohan, Sujatha; Ohara, Osamu
- 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.
- Publication
DNA research : an international journal for rapid publication of reports on genes and genomes, 2010, Vol 17, Issue 3, p197
- ISSN
1756-1663
- Publication type
Journal Article
- DOI
10.1093/dnares/dsq010