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We had investigated 50 unrelated Chinese patients with FVII deficiency and identified, in total, 25 mutations, including 18 missense mutations and 5 splicing mutations, on the <jats:italic>F7<\/jats:italic> gene. The nucleotide transition c.1224T&gt;G (p.His408Gln) in exon 9 constitutes a hotspot of mutation, with 19 patients harbouring this genetic variance. Few patients were homozygous or compound heterozygous for deleterious mutations, such as non\u2010sense mutations, large insertion or deletions, indicating that complete deficiency of FVII may not be compatible with life. The eight novel mutations identified in the study, including one small deletion (p.Glu49GlyfsTer101), three type I missense mutations, p.Cys238Phe, p.Gly420Asp, p.Ala252Val and four type II missense mutations, p.Val336Met, p.Ser342Gly, p.Gly432Ser and p.Ile213Asn, were further analysed by in vitro expression and functional studies. The laboratory phenotype and structural analysis confirmed the functional consequence of p.Ile213Asn mutation involving cleavage and activation site. The molecular dynamic simulations and binding energy calculations along with functional probing of p.Gly432Ser mutation revealed the critical role of residue Gly432 in the binding between activated factor VII (factor VIIa) and tissue factor.<\/jats:p>","DOI":"10.1111\/bjh.18768","type":"journal-article","created":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T11:50:38Z","timestamp":1679572238000},"page":"623-635","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Structural and functional characterization of novel <i>F7<\/i> mutations identified in Chinese factor VII<scp>\u2010<\/scp>deficient patients"],"prefix":"10.1111","volume":"202","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1671-8503","authenticated-orcid":false,"given":"Can","family":"Lou","sequence":"first","affiliation":[{"name":"Faculty of Laboratory Medicine, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai 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