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Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.

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Presentation on theme: "Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein."— Presentation transcript:

1 Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations (A) Schematic representation of FOXG1 gene and (B) FOXG1 protein domain structure and positions of the variations identified: N-terminal domain; FBD domain (forkhead DNA binding domain, amino acids 181–275), GBD domain (Groucho binding domain, amino acids 307–317), JBD domain (JARID1B binding domain, amino acids 383–406), and C-terminal domain are indicated. Mutations are located all along the FOXG1 gene, within different protein domains. Missense mutations are predominantly located in the FBD (91.7%), whereas frameshift mutations are more prominent in the N-terminal domain (57.1%). The novel variants described in this article are highlighted in bold and the recurrent variants are underlined with the corresponding number of recurrences indicated in brackets. FBD = forkhead binding domain; GBD = Groucho binding domain; JBD = JARID1B binding domain. Nancy Vegas et al. Neurol Genet 2018;4:e281 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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