Literature DB >> 2753873

Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine.

T Sakai1, A Yoshioka, K Yamamoto, K Niinomi, Y Fujimura, H Fukui, T Miyata, S Iwanaga.   

Abstract

Hemophilia B Kashihara is a severe hemorrhagic disorder in which the factor IX antigen is present in normal amounts but factor IX biological activity is markedly reduced. In addition, purified factor IX Kashihara is not activated by purified factor XIa in the presence of calcium ions. Amino acid sequence analysis of one of the tryptic peptides isolated from factor IX Kashihara indicated that Val-182 (equivalent to Val-17 in the chymotrypsin numbering system) had been replaced by Phe. No substitution was found in the members of the catalytic triad His-221, Asp-269, and Ser-365 of factor IX Kashihara. The Val-to-Phe replacement found in factor IX Kashihara appears to sterically hinder the cleavage of Arg 180-Val 181 by factor XIa required for the activation of this zymogen.

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Year:  1989        PMID： 2753873     DOI： 10.1093/oxfordjournals.jbchem.a122740

Source DB:  PubMed          Journal:  J Biochem        ISSN： 0021-924X            Impact factor:   3.387


  10 in total

1.  Haemophilia B: database of point mutations and short additions and deletions--second edition.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

2.  Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1992-05-11       Impact factor: 16.971

3.  Haemophilia B: database of point mutations and short additions and deletions.

Authors:  F Giannelli; P M Green; K A High; J N Lozier; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1990-07-25       Impact factor: 16.971

4.  Mutations at arginine residues in two Asian hemophilia B patients.

Authors:  C D Bottema; R P Ketterling; D D Koeberl; S A Taylor; S S Sommer
Journal:  Nucleic Acids Res       Date:  1990-04-11       Impact factor: 16.971

5.  Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Authors:  D D Koeberl; C D Bottema; R P Ketterling; P J Bridge; D P Lillicrap; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

6.  The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

Authors:  C D Bottema; R P Ketterling; H S Yoon; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

7.  Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993.

Authors:  F Giannelli; P M Green; K A High; S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1993-07-01       Impact factor: 16.971

8.  Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

Authors:  F Giannelli; P M Green; S S Sommer; D P Lillicrap; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

9.  In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.

Authors:  George Priya Doss C
Journal:  J Biomed Sci       Date:  2012-03-16       Impact factor: 8.410

10.  F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Authors:  Alessio Branchini; Massimo Morfini; Barbara Lunghi; Donata Belvini; Paolo Radossi; Loredana Bury; Maria Luisa Serino; Paola Giordano; Dorina Cultrera; Angelo Claudio Molinari; Mariasanta Napolitano; Elisabetta Bigagli; Giancarlo Castaman; Mirko Pinotti; Francesco Bernardi
Journal:  J Thromb Haemost       Date:  2021-10-24       Impact factor: 16.036
  10 in total

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