Fig. 3

FVII Sequences A. Deoxyribonucleic acid sequencing of the FVII gene was performed by Fulgent Genetics using the buffy coat of a peripheral blood sample. Two mutations were detected, one c.2 T > C converted the ATG start codon to ACG, thereby abrogating the start and creating a null. A second mutation presumed to be on the other allele was detected, c.1123 C > T p. Arg 315 Trp, and this is most likely the FVII "activating" mutation. B. Multiple sequence alignment of the relevant region of FVII from different species. Amino acid sequences from Genbank were aligned using the multiple sequence alignment Tool Clustal W: Human Homo sapiens factor VII AAA51983.1; Fish Danio rerio factor VII precursor NP_571894.2; Mouse Mus musculus factor VII preproprotein NP_034302.2; Rabbit Coryctolagus cuniculus factor VII. Highlighted in bold capital letters is the alpha 2 helix ³⁰⁶MTQDCLQ³¹² that responds to TF binding by altering its conformation. The C170's loop extends from C310 to C329. The relevant mutation is shown by an arrow from the R315 indicated in red to the W315 above it. The beta 9 sheet ³²⁷MFCA³³⁰ is highlighted in bold capital letters