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. Author manuscript; available in PMC: 2014 Jan 3.
Published in final edited form as: Hum Mutat. 2013 Sep 16;34(12):10.1002/humu.22430. doi: 10.1002/humu.22430

Figure 2.

Figure 2

Overview of NIPBL mutations. The 47 exons of NIPBL are indicated with black bars. The different domains of NIPBL are indicated: MAU interaction domain (1–300), glutamine rich domain (Gln-rich, 418–462, predicted coiled coil (637–657), undecapeptide repeat PETPKQK(G/S)(E/D)(G/S)R (699–764), nuclear localization signal (NLS, 1,108–1,124), HEAT domain (1,767–2,350) consisting of five repeats (H1: 1,767–1,805, H2: 1,843–1,881, H3: 1,945–1,984, H4: 2,227–2,267, H5: 2,313–2,351).