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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

Fig. 3

Schematic view of the EFNB1 gene and ephrin-B1 structure with an overview of all single nucleotide variants identified in this study (a). Ephrin-B1 is encoded by the EFNB1 gene and consists of four structural units, such as a signal peptide, ephrin, transmembrane and cytoplasmatic domains. Similarly to our results, the great majority of all pathogenic variants occurs within the first three exons and are expected to disrupt the signal peptide and the ephrin domain of ephrin-B1. The 3D visualization of both wild type and mutated missense alterations in the ephrin-B1 made applying SWISS-MODEL, i.e., p.(Cys64Phe) (b) and p.(Gly151Ser) (c)

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