Article
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.
British journal of haematology - 1 Feb 2003
Stepanian Alain, Ribba Anne-Sophie, Lavergne Jean-Maurice, Fressinaud Edith, Juhan-Vague Irene, Mazurier Claudine, Girma Jean-Pierre, Meyer Dominique
Abstract excerpt
We report the identification of a new mutation in exon 28 of the von Willebrand factor (VWF) gene in two related patients with type 2M von Willebrand disease (VWD). The molecular abnormality changes the Ser 1285 to Phe within the A1 loop of VWF. The S1285F mutation was reproduced by site-directed mutagenesis on the full-length VWF cDNA. The mutated recombinant VWF (rVWF), F1285rVWF, and the hybrid, S/F1285rVWF,...
Topics
- Adult
- Animals
- Binding Sites
- Blood Platelets
- COS Cells
- Crotalid Venoms
- Electrophoresis, Polyacrylamide Gel
- Humans
- Male
- Mutation
- Platelet Glycoprotein GPIb-IX Complex
- Protein Binding