Fig. 1.
Structure of the TNFRSF6 (APT1) gene encoding the Fas protein, showing locations of the mutations associated with ALPS and lymphoma.
Exon 9 is expanded to show α-helical regions of the intracellular death domain.67 Mutations are newly described or previously reported from NIH (indicated by black symbols),8,11,15,44 Cornell University, New York (indicated by gray symbols),10,26 or Dresden, Germany (indicated by white symbols).30 Mutations seen in individuals with lymphoma are indicated by boxed symbols.