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Protein S Tokushima: abnormal molecule with a substitution of Glu for
Lys-155 in the second epidermal growth factor-like domain of protein S
T Hayashi, J Nishioka, T Shigekiyo, S Saito and K Suzuki
Department of Molecular Biology on Genetic Disease, Mie University School
of Medicine, Tsu-city, Japan.
A 29-year-old female patient with heterozygous congenital protein S
deficiency suffering from thrombotic disease had normal levels of both
total and free protein S antigen (70% and 65%, respectively), but low
cofactor activity (31%) for activated protein C, indicating that she had a
variant of protein S, protein S Tokushima. Western blotting using the
polyclonal anti-protein S antibody showed that approximately half of the
patient's protein S appeared to be the variant with a higher molecular
weight than normal protein S. The partially purified variant protein S
bound neither to the monoclonal antibody recognizing calcium- dependent
conformation of protein S nor to the antibody recognizing the
thrombin-sensitive domain of protein S. Among the exons from II to XV of
the patient's protein S gene encoding from the NH2-terminal end to the
COOH-terminal end of protein S, only one missense mutation (A to G) was
found in exon VI of the protein S alpha-gene, which results in amino acid
substitution of Glu(GAG) for Lys-155(AAG) in the second epidermal growth
factor-like domain of protein S. The recombinant protein S Tokushima
expressed in BHK cells had a slightly higher molecular weight than the
recombinant normal one, did not bind to the antibody specific for the
thrombin-sensitive domain, and did not show the cofactor activity. These
findings suggest that the protein S Tokushima molecule is structurally and
functionally a variant of protein S, and that this variant protein S is the
cause of severe thrombosis in this patient.
Volume 83,
Issue 3,
pp. 683-690,
02/01/1994
Copyright © 1994 by The American Society of Hematology
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