Fig. 3From: Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunctionScheme of the SBF1 protein secondary structure. upstream DENN (uDENN), differentially expressed in normal and neoplastic cells (DENN) and downstream DENN (dDENN) domains, SBF2 domain, Glucosyltransferases, Rab-like GTPase activators and Myotubularins (GRAM) domain, Myotubularin-like phosphatase domain and PH (Pleckstrin Homology) domain. Pins highlight all reported variants: light blue—Romani et al. [19]; green—Manole et al. [17]; orange—Nakhro et al. [18]; purple—Alazami et al. [15]; blue—Flusser et al. [16]; red—our variantsBack to article page