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Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain

Zheng, D.Q.; Shurafa, M.; James, H.L.

Blood Coagulation and Fibrinolysis An International Journal in Haemostasis and Thrombosis 7(1): 93-96

1996

ISSN/ISBN: 0957-5235
PMID: 8845469
Document Number: 457804
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 (Gly-331 (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.

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