Fig. 1 | Nature Communications

Fig. 1

From: Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Fig. 1

Segregation of heterozygous STAT5B missense mutations in the families. a Individuals bearing de novo (family 1) or inherited (families 2 and 3) heterozygous STAT5B mutations are indicated by half-filled symbols. Standard deviation score of last reported height [SDS], relative immunoglobulin E [IgE] levels, and the occurrence of eczema are shown below the symbols. Index patients are marked by an arrow. Question marks indicate an unknown genotype. n.d., no data available. b Schematic of the STAT5B protein (drawn to scale) with major functional domains (domains: ND, N-terminal; CCD, coiled-coil; DBD, DNA-binding; L, linker; SH2, src-homology 2; TAD, transactivation), their boundaries, and tyrosine residue (Tyr699) whose phosphorylation is necessary for STAT5B activation. Positions of previously reported homozygous amino acid substitutions are shown above the bar (arrows: red, protein truncating variants; blue, missense); heterozygous missense mutations identified in this study are indicated below the bar (green arrows)

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