KMeyeDB: a graphical database of mutations in genes that cause eye diseases.

Abstract

KMeyeDB (http://mutview.dmb.med.keio.ac.jp/) is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser with smooth user-interface, without user registration. The results are displayed on the graphical windows together with statistical calculations. All mutations and associated data have been collected from published articles. Careful data analysis with KMeyeDB revealed many interesting features regarding the mutations in 167 genes that cause 326 different types of eye diseases. Some genes are involved in multiple types of eye diseases, whereas several eye diseases are caused by different mutations in one gene.

• Authors: Takashi Kawamura, Masafumi Ohtsubo, Susumu Mitsuyama, Saho Ohno-Nakamura, Nobuyoshi Shimizu, Shinsei Minoshima
• Journal: Human mutation (Hum Mutat) Vol. 31 Issue 6 Pg. 667-74 (Jun 2010) ISSN: 1098-1004 [Electronic] United States
• PMID: 20232414 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Databases, Genetic
• Eye Diseases (classification, genetics, pathology)
• Genetic Predisposition to Disease (genetics)
• Humans
• Information Storage and Retrieval (methods)
• Internet
• Mutation
• Software