Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure

Blood

Volumn 96, Issue 3, 2000, Pages 979-987

  Liu, M L ^a   Shen, B W ^a   Nakaya, S ^a   Pratt, K P ^a   Fujikawa, K ^a   Davie, E W ^a   Stoddard, B L ^a   Thompson, A R ^a  

^a PUGET SOUND BLOOD CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8C;

AMINO ACID SEQUENCE; ARTICLE; CRYSTAL STRUCTURE; GENE LOCATION; HEMOPHILIA; HUMAN; MISSENSE MUTATION; MOLECULAR MODEL; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN STABILITY; SEQUENCE ANALYSIS;

EID: 0034254264     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.3.979     Document Type: Article

References (50)

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3. The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor
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6. An immunogenic region within residues Val 1670-Glu1684 of the factor VIII light chain induces antibodies which Inhibit binding of factor VIII to von Willebrand factor
7. Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy
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9. The phospholipid binding property of the C2 domain of human factor VIII
10. A factor VIII neutralizing monoclonal antibody and a human inhibitor alloantibody recognizing epitopes in the C2 domain inhibit factor VIII binding to von Willebrand factor and to phosphatidylserine
11. Some factor VIII inhibitor antibodies recognize a common epitope corresponding to C2 domain amino acids 2248 through 2312, which overlap a phospholipid binding site
12. Dominant C2 domain epitope specificity of inhibitor antibodies elicited by a heat pasteurized product, factor VIII CPS-P, in previously treated hemophilia A patients without inhibitors
13. Residues Glu2181-Val2243 contain a major determinant of the inhibitory epitope in the C2 domain of human factor VIII
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23. Modeling hemophilic factor VIII (F.VIII) C1 and C2 domain mutations into the 1.5 Å human C2 domain crystal structure
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