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

被引:14
作者
Zheng, DQ
Shurafa, M
James, HL
机构
[1] UNIV TEXAS,CTR HLTH,DEPT BIOCHEM,TYLER,TX 75710
[2] HENRY FORD HOSP,DIV HEMATOL ONCOL,DETROIT,MI 48202
关键词
factor VII; missense mutation; genetic variant;
D O I
10.1097/00001721-199601000-00012
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:93 / 96
页数:4
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