Figure 1 | Human Genome Variation

Figure 1

From: Factor VII deficiency: a novel missense variant and genotype–phenotype correlation in patients from Southern Italy

Figure 1

(a) Schematic diagram of the FVII structure features adopted by UniProtKB (P08709, FA7_HUMAN). A focus of the area of the FVII structure including Cys400 and Cys428 is shown. Disulfide bridge between Cys400 and Cys428 is highlighted and labeled. (b) Multiple alignment of FVII protein sequences generated by MUSCLE version 3.6 (using option: -maxiters 2) from HomoloGene automated system. The Cys400 residue (according to H. sapiens FVII sequence numbering) is shown in the narrow box. NP_062562.1: H. sapiens; XP_001149885.2: P. troglydytes; NP_001073605.1: M. mulatta; NP_001041498.1: C. lupus; NP_001029978.1: B. taurus; NP_034302.2: M. musculus; NP_690059.1: R. norvegicus; NP_989773.1: G. gallus; NP_001083027.1: D. rerio; NP_001083027.1: X. tropicalis. (c) Molecular modeling performed by SwissPdbViewer application. Visualizations of the disulfide bridge Cys400-Cys428 (on the left) in the Cys400-FVII structure (PDB code: 2C4F) and of the broken disulfide bridge Cys400-Cys428 (on the right) in the Ser400-FVII structure (PDB code: 2C4F) are shown.

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