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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

Fig. 3

Scheme 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 variants

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