case_images: PMC6344114_01
case_images: (A) The pedigree of a Chinese deep vein thrombosis (DVT) family (* represents the individual's DNA was available). (B) c.281T>C variation in SERPINC1 gene. (C) The 2 excrescent strong H-bonds formed by Ser62 side chain and main chain amide of Phe58 and Ala59 (red represents O, blue represents N, fluorescent green represents strong H-bond, grayish green represents weak H-bond).
case_images: medi-98-e13999-g001.jpg
case_images: PMC6344114_01_medi-98-e13999-g001.jpg
case_images: F1
case_images: SERPINC1, PROS1, PROC, F5, and F2 were checked and only 1 heterozygous missense variation, c.281T>C, was identified within the SERPINC1 gene (Fig. 1B). Sanger sequencing showed that the variation was cosegregated with DVT phenotype in the family except for Ser is a hydroxyl group polar amino acid; its OH-side chain may form 2 additional H-bonds with Phe58 and Ala59 (Fig. 1C).