M121K (p.Met121Lys) variant of SERPINC1 (Antithrombin-III)
M121K (p.Met121Lys) 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.
M121K (p.Met121Lys) variant details
- p.Met121Lys
- UniProt VAR 027454
- Pathogenic
- in AT3D
- Missense
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. (PMID 12894857)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)