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. 1999 Mar 16;96(6):3132–3136. doi: 10.1073/pnas.96.6.3132

Figure 2.

Figure 2

The two truncating c-mpl mutations in the CAMT patient. (A) Sequences of c-mpl exon 4 in the CAMT patient and a control. A heterozygous C-to-T transition at cDNA position 556 (arrow), which is the first nucleotide of codon 156, changes a glutamine residue for a premature stop codon in the patient. (B) Sequences of c-mpl exon 10 in the patient and a control. A heterozygous deletion of nucleotide thymine at position 1,499 in the patient (arrow) results in a frameshift, leading to a premature truncation. For A and B, the nucleotide numbers are based on the predicted cDNA sequence (GenBank accession no. M90102). (C) The schematic structure of human c-Mpl and two point mutations found in the CAMT patient.