• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of narLink to Publisher's site
Nucleic Acids Res. Jan 1, 1998; 26(1): 265–268.
PMCID: PMC147172

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


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 (151K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Green PM, Naylor JA, Giannelli F. The hemophilias. Adv Genet. 1995;32:99–139. [PubMed]
  • Giannelli F, Green PM, High KA, Sommer S, Lillicrap DP, Ludwig M, Olek K, Reitsma PH, Goossens M, Yoshioka A, et al. Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res. 1991 Apr 25;19 (Suppl):2193–2219. [PMC free article] [PubMed]
  • Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry. 1985 Jul 2;24(14):3736–3750. [PubMed]
  • Handford PA, Mayhew M, Baron M, Winship PR, Campbell ID, Brownlee GG. Key residues involved in calcium-binding motifs in EGF-like domains. Nature. 1991 May 9;351(6322):164–167. [PubMed]
  • Pang CP, Crossley M, Kent G, Brownlee GG. Comparative sequence analysis of mammalian factor IX promoters. Nucleic Acids Res. 1990 Nov 25;18(22):6731–6732. [PMC free article] [PubMed]
  • 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. [PubMed]
  • 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]
  • Agarwala KL, 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. [PubMed]
  • 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. [PMC free article] [PubMed]
  • Giannelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Figueiredo MS, et al. Haemophilia B: database of point mutations and short additions and deletions, 7th edition. Nucleic Acids Res. 1997 Jan 1;25(1):133–135. [PMC free article] [PubMed]
  • Thompson AR. Molecular biology of the hemophilias. Prog Hemost Thromb. 1991;10:175–214. [PubMed]
  • Ketterling RP, Vielhaber E, Sommer SS. 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]
  • Saad S, Rowley G, Tagliavacca L, Green PM, 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]
  • Bottema CD, Koeberl DD, Ketterling RP, Bowie EJ, Taylor SA, Lillicrap D, Shapiro A, Gilchrist G, Sommer SS. 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. [PubMed]
  • Trussell L. Glutamate panorama. Science. 1992 Jul 10;257(5067):277–278. [PubMed]
  • Picketts DJ, Lillicrap DP, Mueller CR. 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. [PubMed]
  • Reijnen MJ, Peerlinck K, Maasdam D, Bertina RM, Reitsma PH. 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]
  • Naka H, Brownlee GG. 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. [PubMed]

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


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles
  • Substance
    PubChem Substance links

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...