Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss-or gain-of-function variants
R Kagawa, R Fujiki, M Tsumura, S Sakata… - Journal of Allergy and …, 2017 - Elsevier
Background Germline heterozygous mutations in human signal transducer and activator of
transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian
susceptibility to mycobacterial diseases, or gain of function (GOF), as in patients with chronic
mucocutaneous candidiasis. LOF and GOF mutations are equally rare and can affect the
same domains of STAT1, especially the coiled-coil domain (CCD) and DNA-binding domain
(DBD). Moreover, 6% of patients with chronic mucocutaneous candidiasis with a GOF …
transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian
susceptibility to mycobacterial diseases, or gain of function (GOF), as in patients with chronic
mucocutaneous candidiasis. LOF and GOF mutations are equally rare and can affect the
same domains of STAT1, especially the coiled-coil domain (CCD) and DNA-binding domain
(DBD). Moreover, 6% of patients with chronic mucocutaneous candidiasis with a GOF …