Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

@article{Bock1988AntithrombinIU,
  title={Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.},
  author={Susan Clark Bock and Jean Marrinan and Elzbieta Radziejewska},
  journal={Biochemistry},
  year={1988},
  volume={27 16},
  pages={6171-8}
}
A dysfunctional antithrombin III (ATIII) gene encoding a qualitatively and quantitatively abnormal anticoagulant molecule is responsible for hereditary thrombosis in a Utah kindred [Bock et al. (1985) Am. J. Hum. Genet. 37, 32-41]. Nucleotide sequencing of the entire protein-encoding portion of the cloned ATIII-Utah gene revealed a C to T transitional mutation which converts proline-407 to leucine. Proline-407 is located 14 amino acids C-terminal to the reactive site arginine of ATIII in a core… CONTINUE READING

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