Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female

Figure 1

The SERPINC1 gene and protein domain structures. The figure showed gene ID 462 SERPINC1 as well as merged features of NP_000479.1 and NM_000488.3 with 1357 kb. The SERPINC1 gene shown by a heavy horizontal arrow line represents genomic DNA. Exons are shown as vertical green bars and numbered from 1 to 7. The amino acids encoded by each exon are indicated below the vertical green bars and are numbered from 1 to 464. The SERPINC1 protein structure showed two main domains: the NH₂-terminal heparin-binding domain encoded by exon 2 and a COOH-terminal thrombin- (serine protease-) binding domain. The patient point mutation is indicated by red colour in the dotted box at exon 7 (c.1320C>G); also, the result of this mutation is indicated on 440 a.a which leads to produced Leu (leucine) instead of Phe (phenylalanine) (adapted from [9, 10]).