A natural variant with a point mutation resulting in a homozygous Arg to His substitution at position 388 in prothrombin.
d'Audigier
Clément
C
Pasmant
Eric
E
Bournier
Odile
O
Laurian
Yves
Y
Guillin
Marie Claude
MC
Bezeaud
Annie
A
D001120:Arginine / Q000737:chemistry; D001665:Binding Sites; D002648:Child; D002845:Chromatography / Q000379:methods; D005260:Female; D014644:Genetic Variation; D006639:Histidine / Q000737:chemistry; D006720:Homozygote; D006801:Humans; D007020:Hypoprothrombinemias / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D011517:Prothrombin Time
D006639:Histidine; D011516:Prothrombin; D001120:Arginine