Parkinson's Disease Mutation Database

This mutation database was created to capture the mutation spectrum and ultimately the mutation frequency of genes involved in monogenic forms of Parkinson’s disease. Everyone is invited to explore the database for information useful for their research and to give feedback or suggestions. Click here for the User Instructions or click here to go directly to the Mutation Database.

External registered users are invited to submit mutations online, which will be curated and then made available to the public.

For information related to this mutation database, please email bschuele@thepi.org.

- Background - 

Several genes and susceptibility factors have been identified as being causative for or associated with Parkinson’s disease (PD) in the past decade. The impulse to create a mutation database for PD is based on the growing number of mutations in the different genes and susceptibility factors associated with PD.

Genes Related to Parkinson's Disease:

 Locus

 Gene

 Location

Inheritance 

 PARK1  Alpha-synuclein  4q21  Dominant
 PARK2  Parkin  6q25.2-q27    Recessive
 PARK3  ?  2p13  Dominant
 PARK4  Alpha-synuclein  4q21  Dominant
 PARK5  UCHL1  4p14  Dominant
 PARK6  PINK1  1p35-37  Recessive
 PARK7  DJ1  1p36  Recessive
 PARK8  LRRK2  12q12  Dominant 
 PARK9  ATP13A2  1p36  Recessive
 PARK10  ?  1p  Dominant?
 PARK11  GIGYF2  2q34  Dominant
 PARK12  ?  Xq21-q25  X-linked
 PARK13  HTRA1   2p12  Dominant?

- Methods -

We searched the NCBI database for publications screening PD patients for mutations in the SNCA, PARKIN, PINK1, DJ-1, and LRRK, gene. We used the search terms: gene name or gene symbol and “mutation”. In this Database only original descriptions are included. We have applied a software, LOVD 2.0 (Leiden Open Variation Database 2.0, Leiden University, Netherlands), which is a flexible tool for gene centered collection of DNA variations.

- Discussion - 

The database was created predominantly to summarize the disease causing mutations in contrast to the PD Gene database (http://www.pdgene.org/) that aims to provide a comprehensive, unbiased and regularly updated collection of genetic association studies performed on PD phenotypes. The challenge for the mutation database is how to define a pathogenic sequence variant. In general, frameshift mutations, nonsense mutations, and splice-site variations are considered pathogenic. Amino acid substitutions, on the other hand, require more detailed analysis to determine pathogenicity such as screening control samples, segregation studies in families, in silico and functional analysis of the protein.

- Conclusion -

The database provides a comprehensive tool for basic scientists as well as clinicians to quickly get an overview of the known and recurrent mutations and compare their findings and clinical test results with the status of the literature. As this database will grow, we continue to update and expand it by adding mutation frequencies and phenotype descriptions as well as adding in silico predictions on protein function and alternative splicing patterns.

The database was compiled and has been curated by Birgitt Schuele, Krisztina K. Johansen and Arjun Raman.

The Parkinson’s Institute makes no warranty as to accuracy of the database and will not be held responsible for any consequences arising out of any inaccuracies or omissions of this database.

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