Fig. 2.

GOF STAT1 mutations. Linear representation of the human STAT1 alpha isoform with GOF mutations associated with mycoses. Coding exons are numbered with roman numerals. Regions corresponding to the N-terminal segment (NTS), coiled-coil domain (CCD), DNA binding domain (DBD), linker domain (L), SH2 domain (SH2), tail segment domain (TS) and transactivator domain (TA) are indicated by rectangles. Mutations colored in blue affect the coiled-coil domain and colored in red affect the DNA-binding domain. GOF mutations in the upper part of the Figure have been published previously [19–34, 42–45]. GOF mutations listed in the lower part were found in the cohort under study. Each dot represents one patient