Welcome to Mutation@A Glance
This website provides the scientific community with a bioinformatics tool for mutation analysis of causative genes of human diseases. Currently, mutation data of 2240 genes associated with human diseases available in OMIM, UniProt and RAPID (Resource of Asian Primary Immunodefeciency Diseases). More than 19 million polymorphism data from dbSNP BUILD 132 of 20960 genes are also available. To learn how to use this tool, please see short videos for your guidance. The website works fine on Firefox, Safari or Google Chrome. If it does not work on your browser, please check System Requirements.
Reference: Hijikata A., et al. Mutation@A Glance: An integrative web application for analysing mutations from human genetic diseases. DNA Res. 2010. [PubMed]
Browse Known Mutations
Please enter a gene symbol of interest, e.g. STAT3, to browse the known mutation data on the nucleotide/amino acid sequences and protein structures.
Note: Manually curated mutation data is currently available only for PID genes in the RAPID database, and the data for the other genes are retrieved from OMIM and UniProt databases.
Find New Mutations
Please specify a particular gene symbol of interest and paste/upload its DNA sequence data to find and evaluate the mutations occuring in the input sequence(s).