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.
Service d'Hématologie Biologique, Clichy, France.
Stanislas
S
Rouy
Dominique
D
Vidaud
Jean-Luc
JL
Alessandri
Marie-Dominique
MD
Dautzenberg
Laurence
L
Venisse
Marie-Claude
MC
Guillin
Annie
A
Bezeaud
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