Figure 3
Figure 3. Schematic representation of the localization of molecular mutations at the protein level. Localization of all mutations detected in 72 persons with CMML and CMML-derived AML within the protein. Genomic sequencing of the protein-coding region and splice donor/acceptor sites showed missense (black triangles), nonsense (green triangles), and frameshift mutations (red triangles). Mutations found in CBL and TET2 genes resulted in new splice variants (blue triangles). Most mutations were found in conserved domains, and specific known conserved motifs and domains are shown for each protein. DSBH indicates 2OG-dependent dioxygenase domain; IMDH, isocitrate/isopropylmalate dehydrogenase, conserved sites; PEST sequence, P indicates proline (P), glutamic acid (E), serine (S), and threonine (T); PHD, the plant homeodomain; TKB, tyrosine kinase binding domain; RF, ring finger; L, linker sequence; PPP, proline-rich region; LZ/UBA, leucine zipper/ubiquitin-associated domain; and RAS, subfamily of RAS small GTPases binding domain.

Schematic representation of the localization of molecular mutations at the protein level. Localization of all mutations detected in 72 persons with CMML and CMML-derived AML within the protein. Genomic sequencing of the protein-coding region and splice donor/acceptor sites showed missense (black triangles), nonsense (green triangles), and frameshift mutations (red triangles). Mutations found in CBL and TET2 genes resulted in new splice variants (blue triangles). Most mutations were found in conserved domains, and specific known conserved motifs and domains are shown for each protein. DSBH indicates 2OG-dependent dioxygenase domain; IMDH, isocitrate/isopropylmalate dehydrogenase, conserved sites; PEST sequence, P indicates proline (P), glutamic acid (E), serine (S), and threonine (T); PHD, the plant homeodomain; TKB, tyrosine kinase binding domain; RF, ring finger; L, linker sequence; PPP, proline-rich region; LZ/UBA, leucine zipper/ubiquitin-associated domain; and RAS, subfamily of RAS small GTPases binding domain.

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