Parkinson Disease Mutation Database





Parkinson Disease Mutation Database

The Parkinson Disease Mutation Database (PDmutDB) aims at collecting all known mutations and non-pathogenic coding variations in the genes related to Parkinson disease (PD).

The PDmutDB website was launched in November 2009 as a locus-specific database (Horaitis et al., Nature Genetics 39: 425, 2007) following the guidelines of the Human Genome Variation Society.

The database is updated continuously and contains mutations reported in the literature and at scientific meetings, and unpublished mutations directly submitted to the database. To date, PDmutDB contains mutations in the genes encoding α-synuclein (SNCA), Leucine-rich repeat kinase 2 (LRRK2), Parkin (PARK2), PTEN-induced putative kinase 1 (PINK1) and DJ-1 (PARK7), and holds information on 535 different DNA variations and 2084 families.

Patients and their relatives can find informative web sites in the links section. Also, links for other target groups including caregivers, physicians and researchers are listed.

PDmutDB is curated by Karen Nuytemans.

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