Sequence of acquisition of mutations in the CN patient demonstrated on a schematic presentation of the G-CSFR.

Arrows indicate positions of acquired point mutations of the G-CSFR mRNA at nt 2363, 2390, and 2414. The mutations either lead to an amino acid exchange from aspartate (asp) to asparagine (asn; nt 2363) or from glutamine (gln) to stop codons (TAA and TAG; nt 2390 and 2414). Gray boxes indicate the homologous domains (box 1-3) conserved in the cytokine receptor family. EC indicates extracellular; TM, transmembrane; IC, intracellular domain; compl, complete; aa, amino acids; nt, nucleotide.