Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants - Kagawa, Reiko; Fujiki, Ryoji; Tsumura, Miyuki; Sakata, Sonoko; Nishimura, Shiho; Itan, Yuval; Kong, Xiao-Fei; Kato, Zenichiro; Ohnishi, Hidenori; Hirata, Osamu; Saito, Satoshi; Ikeda, Maiko; et al. (Journal of allergy and clinical immunology, 2017)
Keywords: Alanine; Alanine - genetics; alanine scanning; Allergy and Immunology; Biological Assay; Candidiasis; Chronic mucocutaneous candidiasis; Computer applications; Deoxyribonucleic acid; DNA; Female; Genes; Genetic Predisposition to Disease; Genomes; Human subjects; Humans; Kinases; Male; Mendelian susceptibility to mycobacterial disease; Missense mutation; Mutagenesis; Mutation; Mycobacterium Infections - genetics; Protein Domains; Proteins; reference database; Scanning mutagenesis; Signal transduction and activator of transcription 1; Stat1 protein; STAT1 Transcription Factor - genetics; Transcription; Viral infections; CADD; ISGF3; LOF; AD; alanine scanning; reference database; DBD; chronic mucocutaneous candidiasis; Mendelian susceptibility to mycobacterial disease; GAF; AR; STAT; ExAc; CMC; GAS; dbSNP; MSMD; Signal transduction and activator of transcription 1; IRF; MSC; WT; GOF; Signal transducer and activator of transcription; Loss of function; Autosomal recessive; DNA-binding domain; Mutation significance cutoff; Exome Aggregation Consortium; Combined annotation-dependent depletion; Gain of function; Gamma-activating sequence; IFN-γ activation factor; Autosomal dominant; Mendelian susceptibility to mycobacterial diseases; Single Nucleotide Polymorphism Database; Wild-type; Interferon-stimulated gene factor 3; Interferon regulatory factor