Article
Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine.
The Journal of biological chemistry - 5 Nov 1990
Gandrille S, Aiach M, Lane D A, Vidaud D, Molho-Sabatier P, Caso R, de Moerloose P, Fiessinger J N, Clauser E
Abstract excerpt
An hereditary abnormal antithrombin III (ATIII Geneva) with defective heparin cofactor activity was characterized by DNA single strand amplification and subsequent direct sequencing. ATIII Geneva was found to have a G to A transition in Exon IIIa leading to an Arg-129 to Gln mutation. This amino acid is part of the ATIII region comprising residues 114-154, which contains the highest proportion of basic residues...
Topics
- Amino Acid Sequence
- Antithrombin III
- Arginine
- Base Sequence
- Binding Sites
- DNA
- Exons
- Glutamine
- Heparin
- Humans
- Kinetics