Autosomal Dominant Polycystic Kidney Disease Mutation Database: PKDB PKD logo
Acknowledgments Welcome PKD1 PKD2 Variant Submission Acknowledgements Contact

The financial support for this database has been graciously provided by the PKD Foundation

Special thanks to Athena Diagnostics, and the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) for the contribution of unpublished mutations as well as all of those who have contributed to the published body of work on ADPKD

This database was designed and developed by the following key individuals:

Version 2.9:
Sandro Rossetti & Peter Harris
Database Curation
Version 2.5:
Sandro Rossetti & Peter Harris
Database Curation
Version 2.1:
Brian Wilson
Database Design & Programming.
Sandro Rossetti
Database Curation

Version 1:
Alex Gout
Data collation, curation and database construction.
Neilson Martin
Hardware set-up, software configuration and programming.
David Ravine
Data collation and resource conceptualization.

It would not have been possible without guidance, critical comments and assistance from the following:
Martijn Breuning, Leiden, The Netherlands
David Cooper, Cardiff, UK Lisa Guay-Woodford, Birmingham, USA Heikki Lehvaslaiho, Hinxton, Cambridge, UK, Terry Watnick, Baltimore, USA
Alastair Brown, Edinburgh, UK Dick Cotton, Melbourne, Australia Dorien Peters, The Netherlands Vicente Torres, Rochester, USA Arlene Chapman, Atlanta, USA Greg Germino, Baltimore, USA Michael Krawczak, Kiel, Germany


Ng PC, Henikoff S.
Predicting Deleterious Amino Acid Substitutions,
Genome Res. 2001 May; 11(5): 863.874.

Ng PC, Henikoff S.
Accounting for Human Polymorphisms Predicted to Affect Protein Function,
Genome Res. 2002 December; 436-446

Ng PC, Henikoff S.
SIFT: predicting amino acid changes that affect protein function,
Nucleic Acids Research, 2003, Vol. 31, No. 13 3812-3814

Kumar P, Henikoff S, Ng PC.
"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm."
Nature Protoc-4 2009; 1073-1081

Align GVGD

Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A.
"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral."
J Med Genet. 2005 Jul 13; [Epub ahead of print]

Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV.
"Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods."
Nucleic Acids Res. 2006 Mar 6;34(5):1317-25. Print 2006.
PMID: 16522644 [PubMed - indexed for MEDLINE]

Human Splicing Finder

Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C.
"Human Splicing Finder: an online bioinformatics tool to predict splicing signals."
Nucleic Acid Res, 2009

Berkeley Drosophila Genome Project

Reese MG, Eeckman FH, Kulp D, Haussler D, "Improved Splice Site Detection in Genie."
J Comp Bio 4(3), 311-23