PSTPIP1 (NM_003978.5) sequence variants

This database is primary aimed at providing an exhaustive and updated registry of sequence variants identified in auto-inflammatory disorder related genes. Since we believe that an attempt to retrieve phenotypical information from all patients identified throughout the world would be an impossible task, we chose to allow only one inclusion per variant (duplicates are automatically rejected), although we allocated a short space for clinical information on the initial patient. The relatively high number of variants with unknown associated phenotype likely stems from the fact that most data are submitted by laboratories performing genetic diagnosis, which do not always have relevant clinical information about the patients. Conversely, a number of apparently simple polymorphisms, i.e. intronic variants not located in splice acceptor or donor sites and silent mutations, were found in symptomatic individuals during the diagnostic test. Since functional experiments are generally lacking, we cannot rule out that these variants do not alter regulatory splice elements, thus acting as true mutations. For all these reasons, we recommend that this database should not be used as a reference for phenotype-genotype correlation.