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. Author manuscript; available in PMC: 2021 Jun 29.
Published in final edited form as: Eur J Dermatol. 2018 Apr 1;28(2):209–216. doi: 10.1684/ejd.2017.3210

Figure 3.

Figure 3.

Upper panel: schematic representation of the coding region of the ST14 gene alongside known protein structural and functional domains (intronic regions are not drawn to scale). The location of all mutations known to date is also indicated. The novel missense mutation c.1315G>A (p.Gly439Ser), identified in the present report, is indicated in red; this affects the second CUB domain of the mature ST14 protein. Lower panel: Sequence comparison of the ST14 gene across different species, highlighting homology and the conserved glycine residue at position 439.