ArticleOrphanet journal of rare diseases2024
Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China.Orphanet journal of rare diseases · 2026Article
- Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations.Thrombosis journal · 2025Article
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Authors and funding
4 authors.
Funding
Abstract
backgroundIdentification of mutations in the SERPINC1 has illuminated the intricate pathways underlying antithrombin (AT) deficiency. Our group identified a variation in the SERPINC1 gene (c.964 A > T, p.Lys322stop) and further investigated the mechanism of this variant causing AT deficiency.
methodsMultiple in silico tools were utilized to predict the conservation of mutations and their impact on the AT structure. The coagulation state was evaluated using the thrombin generation assay. Recombinant AT was overexpressed in HEK293T cells. Intracellular kinetics and extracellular secretion of recombinant AT-K322* were scrutinized by RT-qPCR, Western blotting, ELISA, and immunocytofluorescence.
resultsAnalysis of conservation in silico indicated 43 out of the 143 amino acids deleted byAT-K322* in AT were highly conserved across homologous species. In vitro expression experiments showed that there was no significant difference in mRNA levels between the mutant (AT-K322*) and wild-type (AT-WT) forms of the protein. The truncated AT-K322* protein was clearly detected in cell lysates, but not in the culture medium.
conclusionAT-K322* resulted in the generation of a truncated protein, which in turn affected the secretion of AT, ultimately leading to AT deficiency.
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