About Mutation@A Glance

Mutation@A Glance is an integrated viewer for genetic variations including disease-causing mutations, cancer-related mutations and natural variants in human genes. This tool facilitates analyzing genetic variants occurred in genes of interest at DNA- or Protein sequence level, as well as Protein 3D structure level. Mutation@A Glance hence facilitates understanding of impacts of genetic variations on the gene functions in human diseases.

The web app was originally established by a joint international collaboration between the RIKEN Research Center for Allergy and Immunology (currently Center for Integrative Medical Sciences), Japan and Institute of Bioinformatics, India funded by Special Collaboration Funds for the Promotion of Science and Technology in Japan. The website is hosted and maintained at Nagahama Institute of Bio-Science and Technology, Japan supported by Basis for Supporting Innovative Drug Discovery and Life Science Research (BINDS), Japan Agency for Medical Research and Development.

How to use

If you want to learn how to use Mutation@A Glance, please click the link below and see the quick user's guide.

Quick guide (PDF)

Resources

Genetic variants

All of the variants are mapped onto the Human Reference Genome Assembly GRCh38.

Database Version # of variants
dbSNP
ClinVar
COSMIC
KGP3 (1000 Genomes)
ExAC

Predictions of effects of missense mutations are obtained from dbNSFP.

Human diseases

Database Description
OMIM A comprehensive, authoritative compendium of human genes and genetic phenotypes.
RAPID A resource for the primary immunodeficiency diseases (PID) from asia. (will be included soom.)

Genes, transcripts and proteins

Database Description
NCBI Gene A portal to gene-specific content based on NCBI's RefSeq project, information from model organism databases, and links to other resources.
RefSeq A comprehensive, integrated, non-redundant, well-annotated set of sequences.
Ensembl Genome databases for vertebrates and other eukaryotic species.
UniProt A comprehensive resource for protein sequence and annotation data.
Protein Data Bank An information portal to biological macromolecular structures.
HetPDB-Navi. A secondary database for ligand/small molecules structures in PDB.

Reference

When citing Mutation@A Glance please refer to

A Hijikata, R Raju, S Keerthikumar, S Ramabadran, L Balakrishnan, SK Ramadoss, A Pandey, S Mohan, O Ohara. Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. DNA Res. 17, 3, 197-208, 2010. [Full Text]

Contact

E-mail: mutation@nagahama-i-bio.ac.jp

Please feel free to contact us if you have any questions or find bugs in this website. We always welcome your feedback and suggestions for further development. (日本語でも大丈夫です)

Disclaimer

This server and its associated databases are for research purpose only, not for clinical or commercial use. Permission to use this server and its associated databases are here by granted to non-profit educational and research institutions, for educational and research purposes only. This server is being developed as a tool for scientific research. Hence, they are not presented as error free, complete, and useful for any specific application. The responsibility of Nagahama Institute of Bio-Science and Technology (hereinafter called N-Bio) and RIKEN are limited to applying best efforts in providing and publishing good programs and data. N-Bio and RIKEN shall not be liable for any claims, demands, liabilities, costs, losses, damages or expenses of whatsoever kind of nature caused to or suffered by any person or entity that directly or indirectly arise out or result from the use of these databases or in connection of thereof. These documents are subject to change at any time without notice. The names of N-Bio and RIKEN should not be associated with publicity or business promotion without prior written approval.