Skip to main content
PMC home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1998 Jan 1;26(1):265–268. doi: 10.1093/nar/26.1.265

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

F Giannelli 1, P M Green 1, S S Sommer 1, M Poon 1, M Ludwig 1, R Schwaab 1, P H Reitsma 1, M Goossens 1, A Yoshioka 1, M S Figueiredo 1, G G Brownlee 1
PMCID: PMC147172  PMID: 9399849

Abstract

The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.

Full Text

The Full Text of this article is available as a PDF (151.4 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Agarwala K. L., Kawabata S., Takao T., Murata H., Shimonishi Y., Nishimura H., Iwanaga S. Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169. Biochemistry. 1994 May 3;33(17):5167–5171. doi: 10.1021/bi00183a021. [DOI] [PubMed] [Google Scholar]
  2. Bottema C. D., Koeberl D. D., Ketterling R. P., Bowie E. J., Taylor S. A., Lillicrap D., Shapiro A., Gilchrist G., Sommer S. S. A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. Br J Haematol. 1990 Jun;75(2):212–216. doi: 10.1111/j.1365-2141.1990.tb02651.x. [DOI] [PubMed] [Google Scholar]
  3. Brandstetter H., Bauer M., Huber R., Lollar P., Bode W. X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B. Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9796–9800. doi: 10.1073/pnas.92.21.9796. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Giannelli F., Green P. M., High K. A., Sommer S., Lillicrap D. P., Ludwig M., Olek K., Reitsma P. H., Goossens M., Yoshioka A. Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res. 1991 Apr 25;19 (Suppl):2193–2219. doi: 10.1093/nar/19.suppl.2193. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Giannelli F., Green P. M., Sommer S. S., Poon M. C., Ludwig M., Schwaab R., Reitsma P. H., Goossens M., Yoshioka A., Figueiredo M. S. Haemophilia B: database of point mutations and short additions and deletions, 7th edition. Nucleic Acids Res. 1997 Jan 1;25(1):133–135. doi: 10.1093/nar/25.1.133. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Green P. M., Naylor J. A., Giannelli F. The hemophilias. Adv Genet. 1995;32:99–139. doi: 10.1016/s0065-2660(08)60204-7. [DOI] [PubMed] [Google Scholar]
  7. Handford P. A., Mayhew M., Baron M., Winship P. R., Campbell I. D., Brownlee G. G. Key residues involved in calcium-binding motifs in EGF-like domains. Nature. 1991 May 9;351(6322):164–167. doi: 10.1038/351164a0. [DOI] [PubMed] [Google Scholar]
  8. Hase S., Kawabata S., Nishimura H., Takeya H., Sueyoshi T., Miyata T., Iwanaga S., Takao T., Shimonishi Y., Ikenaka T. A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX. J Biochem. 1988 Dec;104(6):867–868. doi: 10.1093/oxfordjournals.jbchem.a122571. [DOI] [PubMed] [Google Scholar]
  9. Ketterling R. P., Vielhaber E., Sommer S. S. The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet. 1994 May;54(5):831–835. [PMC free article] [PubMed] [Google Scholar]
  10. Naka H., Brownlee G. G. Transcriptional regulation of the human factor IX promoter by the orphan receptor superfamily factor, HNF4, ARP1 and COUP/Ear3. Br J Haematol. 1996 Jan;92(1):231–240. doi: 10.1046/j.1365-2141.1995.269804.x. [DOI] [PubMed] [Google Scholar]
  11. Nishimura H., Takao T., Hase S., Shimonishi Y., Iwanaga S. Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue. J Biol Chem. 1992 Sep 5;267(25):17520–17525. [PubMed] [Google Scholar]
  12. Pang C. P., Crossley M., Kent G., Brownlee G. G. Comparative sequence analysis of mammalian factor IX promoters. Nucleic Acids Res. 1990 Nov 25;18(22):6731–6732. doi: 10.1093/nar/18.22.6731. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Picketts D. J., Lillicrap D. P., Mueller C. R. Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nat Genet. 1993 Feb;3(2):175–179. doi: 10.1038/ng0293-175. [DOI] [PubMed] [Google Scholar]
  14. Reijnen M. J., Peerlinck K., Maasdam D., Bertina R. M., Reitsma P. H. Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter. Blood. 1993 Jul 1;82(1):151–158. [PubMed] [Google Scholar]
  15. Saad S., Rowley G., Tagliavacca L., Green P. M., Giannelli F. First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres. Thromb Haemost. 1994 May;71(5):563–570. [PubMed] [Google Scholar]
  16. Thompson A. R. Molecular biology of the hemophilias. Prog Hemost Thromb. 1991;10:175–214. [PubMed] [Google Scholar]
  17. Trussell L. Glutamate panorama. Science. 1992 Jul 10;257(5067):277–278. doi: 10.1126/science.257.5067.277. [DOI] [PubMed] [Google Scholar]
  18. Yoshitake S., Schach B. G., Foster D. C., Davie E. W., Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry. 1985 Jul 2;24(14):3736–3750. doi: 10.1021/bi00335a049. [DOI] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES