The KM‐parkin‐DB: A Sub‐set MutationView Database Specialized for PARK2 (PARKIN) Variants. Issue 8 (3rd June 2015)

• Record Type: Journal Article
• Authors: Mitsuyama, Susumu; Ohtsubo, Masafumi; Minoshima, Shinsei; Shimizu, Nobuyoshi
• Is Part Of: Human mutation. Volume 36:Issue 8(2015:Aug.)
• Page Start: E2430
• Page End: E2440
• Publication Date: 2015-06-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22803
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>We previously isolated PARKIN (<italic>PARK2</italic>) 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 <italic>PARK2</italic> gene/Parkin protein mutations found in Parkinson disease patients. Only carefully evaluated data were deposited in the graphical database <italic>MutationView</italic> (<ext-link ext-link-type="uri" xlink:href="http://mutview.dmb.med.keio.ac.jp" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">http://mutview.dmb.med.keio.ac.jp</ext-link>) 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. <italic>PARK2</italic> gene mutations were found also in some general Parkinson disease patients. The majority (63%) of mutations in <italic>PARK2</italic> 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.</p> </abstract>