PD Mutation Database
The Parkinson Disease Mutation Database (PDmutDB) catalogues all PD mutations reported in the literature, communicated at scientific meetings or directly submitted through this web site. Mutations can be retrieved based on the gene or publication.
Mutations are described at the genomic, mRNA and protein level. For each mutation, the number of unrelated patients/families is recorded. For families the inheritance pattern, mean onset ages, mean ages at death and mean disease duration are given. It is also indicated whether co-segregation of the mutation with the disease is proven. In addition, individual data of sporadic or familial patients are recorded when known, i.e. the phenotype with or without autopsy confirmation, onset age and age at death. Also, citations to the original publications are given with a link to their NLM PubMed record if available.
Polymorphisms with a predicted effect on the protein level are also collected. Their pathogenic nature is excluded based on lack of co-segregation with disease in families and/or presence in aged controls.
Statistical information on the number and occurrence of mutations is available. The presented figures are calculated at retrieval time and therefore reflect the actual database content.
Note! When using PDmutDB, please consult the How To Cite page for information on how to cite PDmutDB in your publication.