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Prothrombin Saint‐Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin
Author(s) -
Rouy Stanislas,
Vidaud Dominique,
Alessandri JeanLuc,
Dautzenberg MarieDominique,
Venisse Laurence,
Guillin MarieClaude,
Bezeaud Annie
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2005.05920.x
Subject(s) - point mutation , amino acid substitution , chemistry , thrombin , mutation , thromboplastin , biochemistry , allosteric regulation , amino acid , microbiology and biotechnology , coagulation , biology , medicine , gene , immunology , platelet , enzyme
Summary A new prothrombin variant, with a point mutation at nucleotide 20 029 resulting in Asp 552 to Glu substitution (prothrombin numbering), has been identified in a male newborn. Plasma prothrombin level was <3%, 16% and 60% when measured by clotting, chromogenic and immunological assays respectively. The substitution did not affect the rate of prothrombin conversion to thrombin but altered thrombin activity. Amino acid 552 has been reported to be involved in the allosteric transition, which is induced by sodium binding to thrombin. This is the first known amino acid substitution at this site to result in dysprothrombinaemia.