Autosomal Dominant Polycystic Kidney Disease Mutation Database: PKDB
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Welcome to the ADPKD Mutation Database

Database Description
The Autosomal Dominant Polycystic Kidney Disease (ADPKD) Database (PKDB) has been established to facilitate the characterization of ADPKD variants in PKD1 and PKD2, the two genes known to have mutations causative of ADPKD. It has been set up to be a repository for all variants in these genes, whether likely disease causing or not.
Please provide feedback to the Administrator on further ways to improve the database.

Data Submission
Data submission will be accepted by E-Mail (Administrator) using the data submission guidelines. Before any submitted data is integrated into the database, it will be examined and edited where necessary by curators of the PKDB in order to ensure the quality of the input data is maintained.

Version 3.1
  • New URL associated with the PKDF ( URL still functions)
  • Database is still curated through Mayo Clinic
  • New 'search by codon' function
  • Correction of mistakes in the database
  • New email, Administrator and data submission links

Version 3.0
  • Addition of multiple publications that have increased the number of variants in the database by 20%.
  • CMS version 2.0 which allows rapid curation of new variants.
  • Various MySQL and security Updates.
  • Updated PKD Foundation Logo and Color Scheme.

Version 2.9
  • Significantly faster loading times due to a streamlined database structure.
  • All new content management solution for rapid entry of new variants including batch uploads.

Version 2.5
  • Added an additional 1,161 new records including unpublished blinded clinical data as well as recent ADPKD publications
  • Enhancement to our scoring algorithm by integrating splicing predictions using HSF and BDGP 
  • Redesigned back end to allow rapid additions to the database resulting in a shorter release cycles
  • Social Media integration with Twitter and Facebook

Appropriate Data Usage
Information in the database should be used for research purposes only. While every effort has been made to depict accurately the nature of the gene variants, users of the database should treat the reported variants with extreme caution. Some changes are neutral polymorphisms and the pathogenicity of many of the gene variants, including most of the missense variants, is unproven. A scoring algorithm is used to determine the potential pathogenicity of the stored mutations. The data within the database are not intended to be used for the provision of any clinical recommendations.

Respecting The Efforts Of Contributing Authors and the Curators of the Database
Any data within the database that has not been published in a periodic journal must be treated as privileged information. Such data should not be disseminated to others without the permission of the contributing author. Please contact the curators of the database about such data. The classification of the significance of variants has been determined employing specific algorithms developed for this data that have not been published in detail. It is not permissible to publish summaries of the data in the database without the permission of the database curators. Please contact the curators of the database for such inquiries. Any publications that employ PKDB to provide information about specific variants should cite the PKDB URL:

User Acknowledgment
In entering this database, you as a user acknowledge having read, understood and are willing to abide by the above stated disclaimer.

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