PMC9833959_01
Pedigree of the family
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The FVII:Ag was checked with an enzyme-linked immunosorbent assay (ELISA) kit (Changfeng), the phenotypes of this family are shown in Table 1, and the pedigree is shown in Figure 1.
Fragment of chromatogram showing the sequence of exon 1 of F7 gene in the pedigree. The genetic variant c.64G>A is marked with red arrow, III: the proband. I: father of the proband. II: mother of the proband. IV: elder son of the proband. V: younger son of the proband.
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Her mother and younger son had the c.1027G>A, p.Gly343Ser (heterozygous) mutation (Figures 2 and 3).
Fragment of chromatogram showing the sequence of exon 8 of F7 gene in the pedigree. The genetic variant c.1027G>A is marked with red arrow, III: the proband. I: father of the proband. II: mother of the proband. IV: elder son of the proband. V: younger son of the proband.
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Her mother and younger son had the c.1027G>A, p.Gly343Ser (heterozygous) mutation (Figures 2 and 3).
Predicted structure of FVII protein. (A) The wild type; (B) the mutant (p.Gly343Ser). p.Gly343Ser is shown in the protein three-dimensional model in red. It shows that p.Gly343Ser would cause a steric collision with Asp403, the collision is depicted as the pink line, and the hydrogen bonds are depicted as green lines.
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A structural analysis of the F7 molecule produced by Swiss-PdbViewer is shown in Figure 4, which shows that the Gly343Ser mutation causes steric collision with Asp403 and generates new hydrogen bonds with Asp403 and Gly402.