Mutations database (English only)
Many mutations responsible for either full (causing classic LND) or partial (causing LNV, Lesch-Nyhan variants) deficiency of HPRT have been identified. Summaries of the different mutation categories appear in the tables below. All individual mutations in each category are listed in separate tables, which can be selected from the menu of the left.
If you would like to add a new mutation which does not appear in these lists, please contact the authors.