Mutation@A Glance: An integrative web application for analysing mutations from human genetic diseases

Atsushi Hijikata, Rajesh Raju, Shivakumar Keerthikumar, Subhashri Ramabadran, Lavanya Balakrishnan, Suresh Kumar Ramadoss, Akhilesh Pandey, Sujatha Mohan, Osamu Ohara

Research output: Contribution to journalArticle

19 Scopus citations

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 MutationA 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. MutationA 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, MutationA 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.

Original languageEnglish (US)
Pages (from-to)197-208
Number of pages12
JournalDNA Research
Volume17
Issue number3
DOIs
StatePublished - Jun 2010

Keywords

  • bioinformatics
  • genetic disease
  • mutation
  • polymorphism
  • protein structure

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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    Hijikata, A., Raju, R., Keerthikumar, S., Ramabadran, S., Balakrishnan, L., Ramadoss, S. K., Pandey, A., Mohan, S., & Ohara, O. (2010). Mutation@A Glance: An integrative web application for analysing mutations from human genetic diseases. DNA Research, 17(3), 197-208. https://doi.org/10.1093/dnares/dsq010