The PAH activity landscape web resource is a database on PAH genotypes and genotype-specific PAH enzymatic function. The Map (more information here) gives an overview on the regional distribution of most common PAH gentoypes in Europe and the Middle East and links to country-specific information on genotypes. The Activity Landscapes (more information here) provide information on PAH enzyme function associated with specific genotypes.
This database is intended to further the understanding of PAH function in the individual patient's situation, taking different metabolic or therapeutic states into account. Moreover, the information provided may support clinicians in designing personalized treatment strategies for patients suffering from PAH deficiency. The web resource will be continuously expanded and users can request genotype-specific PAH activity landscapes, where data is not available.


For more detailed information please also refer to Danecka MK, et al. J Med Genet 2015;52:175–185 or contact the activity landscapes team.


News

2019-09-10: New genotypes from Uygur population from China added to our database. Data from Su et al 2019. Genotypes with only one or more than two detected variants where excluded from inclusion in our database.

2019-02-20: New genotype data from Russia added: 2349 frequent genotypes from Gundurova et al.

2019-01-01: We have a new team member: Welcome Ingrid.

2018-10-01: New genotype data from Chile added: 63 genotypes from Hamilton et al.

2017-06-01: Our lab and team successfully moved from Munich to Hamburg at the University Medical Center Hamburg-Eppendorf.

2017-03-17: New requested landscapes included into our database: R261Q-E57K; Y414C-IVS12; D415N-IVS12

2015-12-01: We have introduced a new search function. You are now enabled to search our database for genotypes with the respective one- or three-letter-code.