F90L (p.Phe90Leu) variant of SERPINC1 (Antithrombin-III)
F90L (p.Phe90Leu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AT3D. The record also includes published literature and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- UniProt VAR 007042
- Pathogenic
- in AT3D
- Missense
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)