Figure 2: Targeted sequencing of the ROBO1 and ROBO2 genes. | Nature Communications

Figure 2: Targeted sequencing of the ROBO1 and ROBO2 genes.

From: Whole-exome and targeted sequencing identify ROBO1 and ROBO2 mutations as progression-related drivers in myelodysplastic syndromes

Figure 2

(a) Profiles of gene mutations in four representative cases with MDS that underwent transformed to RAEB-1 (Patient 4 and Patient 6) or acute myeloid leukaemia (AML; Patient 5 and Patient 7). (b) The relationship of ROBO mutations with other common mutations. Coexisting mutations in the ROBO1- or ROBO2-mutated cohort are shown in a matrix: 20 of 26 cases (76.9%) were positive for other concomitant somatic mutations. (c) ROBO1 and ROBO2 somatic non-synonymous alterations (inverted triangles) are depicted over the affected protein domains. IgI–V (immunoglobulin-like domains) and FNI–III (fibronectin-type domains) belong to the extracellular domain; CC0–3 (conserved cytoplasmic motifs) constitutes the intracellular domain. RAEB-1 or 2, refractory anemia with excess blasts 1 or 2; RARS, refractory anemia with ring sideroblasts; RCMD, refractory cytopenia with multilineage dysplasia.

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