Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.
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.
Hijikata
Atsushi
A
Laboratory for Immunogenomics, RIKEN Research Center for Allergy and Immunology, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
Raju
Rajesh
R
Keerthikumar
Shivakumar
S
Ramabadran
Subhashri
S
Balakrishnan
Lavanya
L
Ramadoss
Suresh Kumar
SK
Pandey
Akhilesh
A
Mohan
Sujatha
S
Ohara
Osamu
O
D019295:Computational Biology; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
D011506:Proteins