P112S (p.Pro112Ser) variant of SERPINC1 (Antithrombin-III)
P112S (p.Pro112Ser) 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.
P112S (p.Pro112Ser) variant details
- p.Pro112Ser
- UniProt VAR 086227
- Pathogenic
- in AT3D
- Missense
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous… (PMID 15140129)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)