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Known GOF and LOF mutations of STAT1
GOF mutations are shown in red, while LOF mutations that cause AD-STAT1 deficiency, AR-STAT1 complete deficiency and AR-STAT1 partial deficiency are shown in brown, purple and green, respectively. N-terminal domain (NTD), coiled-coil domain (CCD), DNA-binding domain (DBD), linker (L) domain, SH2 domain (SH2D), tail segment domain (TSD), transactivation domain (TAD).
