Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain.
An individual identified as having a dysfunctional factor VII was studied to seek underlying genetic defects. A heterozygous mutation in the factor VII gene exon 8 was identified as substitution of A for G at nucleotide position 10,909 [Gly331(GGC) to Asp (GAC)]. An abolished MspI restriction site was used to confirm heterozygosity for the defect. The mutation occurs within the substrate-binding pocket at a locus on the surface of the factor VII molecule containing a protein-protein interactive site for substrates, providing an explanation for the observed dysfunctional procoagulant activity.
Zheng
D Q
DQ
Department of Biochemistry, University of Texas Health Center at Tyler 75710, USA.
Shurafa
M
M
James
H L
HL
D000225:Adenine / Q000737:chemistry; D001483:Base Sequence; D001665:Binding Sites; D002384:Catalysis; D005167:Factor VII / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006147:Guanine / Q000737:chemistry; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D017434:Protein Structure, Tertiary
C101357:Factor VII G331D; D006147:Guanine; D005167:Factor VII; D000225:Adenine