Figure 1 Prediction of pathogenicity and protein localization of SBF1 mutations Prediction of pathogenicity and protein localization of SBF1 mutations.

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Figure 1 Prediction of pathogenicity and protein localization of SBF1 mutations Prediction of pathogenicity and protein localization of SBF1 mutations (A) Predicted pathogenicity of SBF1 missense mutations according to 4 distinct software programs (PolyPhen-2, SIFT, Mutation Assessor, and MetaLR). For each software program, predicted pathogenicity is represented as a spectrum of increasing severity, from white (tolerated/benign variants) to black (deleterious variants). SBF1 mutations are reported with vertical lines of different colors (blue: Korean family; green: Saudi Arabian family; yellow: Syrian family) (see e-Methods for more details). (B) Schematic structure of SBF1 protein and site of mutations. Abbreviation of domains is as follows: DENN = differentially expressed in neoplastic vs normal cells domain, made by the 3 modules uDENN (U), DENN, and dDENN (D); GRAM = glucosyltransferase, Rab-like GTPase activators and myotubularins; RID = Rac-induced recruitment domain; phosphatase = inactive catalytic domain of tyrosine and dual-specificity phosphatase; CC = coiled coil domain; PH = pleckstrin homology domain. Marta Romani et al. Neurol Genet 2016;2:e61 © 2016 American Academy of Neurology