Figure 2
Figure 2. Genetic analysis of family A. (A) Sanger sequencing and intrafamilial segregation pattern of c.922C>T CSF3R mutation. (B) Top panel, Selected residues from the WT structure (PDB record 2D9Q) near Arg308. Arg308 participates in a ladder formation between 2 tryptophan residues W318 and W321. Green dashed lines represent hydrogen bonds. Yellow bars represent sulfur residues. Bottom panel, Putative structure of the complex with the Arg308Cys substitution, showing newly created hydrogen bond. Amino acid coordinates within G-CSFR are labeled with respect to the initial methionine of NP_000751.1.

Genetic analysis of family A. (A) Sanger sequencing and intrafamilial segregation pattern of c.922C>T CSF3R mutation. (B) Top panel, Selected residues from the WT structure (PDB record 2D9Q) near Arg308. Arg308 participates in a ladder formation between 2 tryptophan residues W318 and W321. Green dashed lines represent hydrogen bonds. Yellow bars represent sulfur residues. Bottom panel, Putative structure of the complex with the Arg308Cys substitution, showing newly created hydrogen bond. Amino acid coordinates within G-CSFR are labeled with respect to the initial methionine of NP_000751.1.

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