title: The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
abstract: We previously isolated PARKIN (PARK2) as a gene responsible for a unique sort of Parkinson disease, namely Autosomal Recessive Juvenile Parkinsonism (ARJP). In this study, we surveyed all the available literature describing PARK2 gene/Parkin protein mutations found in Parkinson disease patients. Only carefully evaluated data were deposited in the graphical database MutationView (http://mutview.dmb.med.keio.ac.jp) to construct KM-parkin-DB, an independent sub-set database. Forty-four articles were selected for data curation regarding clinical information such as ethnic origins, manifested symptoms, onset age, and hereditary patterns as well as mutation details including base changes and zygosity. A total of 366 cases were collected from 39 ethnic origins and 96 pathogenic mutations were found. PARK2 gene mutations were found also in some general Parkinson disease patients. The majority (63%) of mutations in PARK2 were restricted to two particular domains (UBL and RING1) of the Parkin protein. In these domains, two major mutations, a large deletion (DelEx3) and a point mutation (p.Arg275Trp), were located.
authors.affiliation: Laboratory of Gene Medicine, Keio University School of Medicine.
authors.forename: Susumu
authors.initials: S
authors.lastname: Mitsuyama
authors.affiliation: Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Ohtsubo
authors.affiliation: Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine.
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
authors.affiliation: Advanced Research Center for Genome Super Power, Keio University.
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D030561:Databases, Nucleic Acid; D006801:Humans; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D017434:Protein Structure, Tertiary; D044767:Ubiquitin-Protein Ligases / Q000737:chemistry / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein
keywords: Database; PARK2; PARKIN; Parkinson disease