[Novel mutation of the GPIIIa gene in the Russian population, Leu40Arg, linked to the Leu33Pro].
Glycoprotein IIb/IIIa complex, a platelet surface fibrinogen receptor, plays a key role in producing primary hemostasis. At present, only a single mutation in the GPIIla gene, Leu33Pro, and a single mutation in the GPIIb gene, lle843Ser, has been described. The mutations are known to enhance signaling functions of the receptor and are associated with the development of arterial thromboses. In the present study, we describe a novel GPIIIa mutation, which is T to G nucleotide substitution in position 1585, resulting in the replacement of Leu for Arg in position 40 of the amino acid sequence of the protein.
Sirotkina
O V
OV
Sheĭdina
A M
AM
Vavilova
T V
TV
Shvarts
E I
EI
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics*; D017354:Point Mutation; D012426:Russia; D013927:Thrombosis / Q000235:genetics
D039661:Integrin beta3; D040201:Platelet Membrane Glycoprotein IIb