Welcome to the ADPKD Mutation Database
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 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.
- 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.
- Significantly faster loading times due to a streamlined database structure.
- All new content management solution for rapid entry of new variants including batch uploads.
- Added an additional 1,161 new records including unpublished blinded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
- Redesigned back end to allow rapid additions to the database resulting in
a shorter release cycles
- Social Media integration with Twitter
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:http://pkd.mayo.ed
In entering this database, you as a user acknowledge having read,
understood and are willing to abide by the above stated disclaimer.