PMID: 2510163Nov 1, 1989Paper

Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution

Proceedings of the National Academy of Sciences of the United States of America
T MiyataH Saito

Abstract

Structural studies on a congenital abnormal coagulation factor XII (Hageman factor), factor XII Washington D.C., have been performed to identify the defect responsible for its lack of procoagulant activity. Amino acid sequence analysis of a tryptic peptide isolated from the abnormal factor XII indicated that Cys-571 (equivalent to Cys-220 in the chymotrypsin numbering system) had been replaced by serine. No other substitutions in the active-site triad--namely, His-393, Asp-442, and Ser-544--were found. We propose that the Cys-571----Ser replacement found in this factor XII variant destroys the formation of the disulfide linkage between Cys-540 and Cys-571, giving rise to an altered conformation of the active-site serine residue or the secondary substrate-binding site and, thus, leads to the loss of enzyme activity.

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Citations

Sep 20, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Naohiro KurotakiJames R Lupski
Sep 5, 2014·Thrombosis and Haemostasis·Jenny BjörkqvistThomas Renné
Jun 19, 2004·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Keiko IshiiKiyoaki Watanabe
Feb 8, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Eri MatsukiShinichiro Okamoto
Jul 15, 2005·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·A GirolamiB Girolami
Oct 4, 2008·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Anna Maria LombardiAntonio Girolami
Apr 14, 2010·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Min-Jung KwonSun-Hee Kim
May 24, 2019·Bioscience, Biotechnology, and Biochemistry·Bangya PengLihu Gong
Nov 1, 1990·Blut·G FuhrerH E Hoffmeister
Oct 22, 2013·The Journal of Biological Chemistry·Kristina M CookPhilip J Hogg
Oct 1, 2021·Hämostaseologie·Sandra KonrathThomas Renné
Jul 27, 2017·Biochimica Et Biophysica Acta. Molecular Cell Research·Henri WeidmannThomas Renné

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