2015年8月1日
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants
Human Mutation
- ,
- ,
- ,
- 巻
- 36
- 号
- 8
- 開始ページ
- E2430
- 終了ページ
- E2440
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/humu.22803
- 出版者・発行元
- John Wiley and Sons Inc.
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.
- リンク情報
- ID情報
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- DOI : 10.1002/humu.22803
- ISSN : 1098-1004
- ISSN : 1059-7794
- eISSN : 1098-1004
- PubMed ID : 25907632
- SCOPUS ID : 84937737952