Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin.
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.
Rouy
Stanislas
S
Service d'Hématologie Biologique, Clichy, France.
Vidaud
Dominique
D
Alessandri
Jean-Luc
JL
Dautzenberg
Marie-Dominique
MD
Venisse
Laurence
L
Guillin
Marie-Claude
MC
Bezeaud
Annie
A
D001483:Base Sequence; D006801:Humans; D007020:Hypoprothrombinemias / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010290:Parents; D017354:Point Mutation / Q000235:genetics*; D011516:Prothrombin / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D013925:Thromboplastin / Q000378:metabolism
D011516:Prothrombin; D013925:Thromboplastin