The PAH activity landscape web resource is a database on PAH genotypes and genotype-specific PAH enzymatic function. The Map gives an overview on the regional distribution of most common PAH genotypes and links to country-specific information on genotypes. The Activity Landscapes 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.
2021-11-18: New genotype data added: 789 genotypes from Iran from Shirzadeh et al, Esfahani et al, Alibakhshi et al, 140 genotypes from Georgia from Gundorova et al. Genotype data on Russian population has been updated for the full list of genotypes (Gundorova et al).
2021-10-18: New genotype data added: 135 genotypes from Brazil from Tresbach et al, Neto et al, 48 genotypes from Mexico from Vela-Amieva et al.
2021-10-15: New genotype data added: 189 genotypes from Japan from Odagiri et al, 13 genotypes from Thailand from Ngiwsara et al, 79 genotypes from Korea from Lee et al, 71 genotypes from Taiwan from Liang et al.
2021-09-10: New genotype data added: 64 genotypes from Australia from Ho et al.
2021-07-23: New genotype data added: 78 genotypes from Romania from Gemperle-Britschgi et al, 110 genotypes from Latvia from Kreile et al.
2021-07-08: New genotype data added: 367 genotypes from France from Jeannesson-Thivisol et al, 411 genotypes from Spain from Aldámiz-Echevarría et al, 220 genotypes from Portugal from Ferreira et al.
2021-06-25: The database of PAH pathogenic variants is updated according to the current HGVS recommendations.
2020-09-01: We have a new team member: Welcome Polina.
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 Gundorova 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.