Figure 2.

Representation of the human STAT1 gene and of the domains of the corresponding protein, with key residues and morbid mutations indicated. The human STAT1α isoform is shown, with its known pathogenic mutations. Coding exons are numbered with roman numerals and delimited by a vertical bar. Regions corresponding to the coiled-coil domain (CC), DNA-binding domain (DNA-B), linker domain (L), SH2 domain (SH2), tail segment domain (TS), and transactivator domain (TA) are indicated, together with their amino-acid boundaries, and are delimited by bold lines. Tyr701 (pY) and Ser727 (pS) are indicated. Mutations in green are dominant and associated with partial STAT1 deficiency and MSMD. Mutations in brown are recessive and associated with complete STAT1 deficiency and intracellular and viral diseases. Mutations in blue are recessive and associated with partial STAT1 deficiency and mild intracellular and/or viral disease. Mutations in red are dominant and associated with gain-of-activity of STAT1 and CMCD.