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. Author manuscript; available in PMC: 2025 Jul 15.
Published in final edited form as: Genet Med. 2025 Jun 23;27(9):101506. doi: 10.1016/j.gim.2025.101506

Figure 4. Structural model and functional effects of valine ELFN1 Val159del.

Figure 4.

A) Overlay of LRR region of AlphaFold generated structures of WT ELFN1 and ELFN1 c.475_477del p.(Val159del) (Del159V). Position of valine 159 is shown by purple stick model. B) Detailed analysis of backbone and side chain configurations in β-strands of LRR domain in WT ELFN1 and ELFN1 Val159del. C) Analysis of WT and c.475_477del p.(Val159del) ELFN1 Venus localization by confocal microscopy in live HEK293 cells. Representative confocal images are shown. D) Examination of ELFN1 expression and surface localization by biotinylation. Representative Western blots of total and surface content of WT and c.475_477del p.(Val159del) ELFN1 are shown. E) Quantification of the surface biotinylation experiments shown in panel B from three independent experiments. ****p<0.0001, t-test. F) Representative western blots with inputs and pull-downs captured by Ecto-ELFN1-Fc and Val159del-Ecto-ELFN1-Fc by protein G beads.