The Factor VIII Structure and Mutation Resource Site: HAMSTeRS Version 4

被引:200
作者
Kemball-Cook, G
Tuddenham, EGD
Wacey, AI
机构
[1] Hammersmith Hosp, Imperial Coll, Sch Med, MRC,Clin Sci Ctr,Haemostasis Res Grp, London W12 0NN, England
[2] Thrombosis Res Inst, Computat Biol Unit, London SW3 6LR, England
关键词
D O I
10.1093/nar/26.1.216
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Since 1996 the HAMSTeRS (Haemophilia A Mutation, Search, Test and Resource Site) WWW site has provided an online resource for access to data on the molecular pathology of haemophilia A, replacing previous text editions of the Haemophilia A Database published in Nucleic Acids Research, This report describes the continued development of the site (version 4), and in particular the expansion of factor VIII (FVIII) structure-related features, Access to the mutation database itself, both for searching the listings and for submission of new mutations, is via custom-designed forms: more powerful Boolean searches of the point mutations in the database are also available, During 1997 a total of 22 novel missense mutations were reported, increasing the total number of unique variants now described to 252 (238 in exonic sequences and 14 at intronic splice junctions). Currently, a total of 586 individual reports with associated phenotypic data are available for searching by any category including phenotype. The FVIII structure section now includes a download of a FVIII A domain homology model in Protein Data Bank format and a multiple alignment of the FVIII amino-acid sequencies from four species (human, murine, porcine and canine) in addition to the virtual reality simulations, secondary structural data and FVIII animation already available, Finally, to aid navigation across this site, a clickable roadmap of the main features provides easy access to the page desired, Our intention is that continued development and updating of the site shall provide workers in the fields of molecular and structural biology with a one-stop resource site to facilitate FVIII research and education, The HAMSTeRS URL is http://europium.mrc.rpms.ac.uk.
引用
收藏
页码:216 / 219
页数:4
相关论文
共 20 条
  • [11] The sequence Glu(1811)-Lys(1818) of human blood coagulation factor VIII comprises a binding site for activated factor IX
    Lenting, PJ
    vandeLoo, JWHP
    Donath, MJSH
    vanMourik, JA
    Mertens, K
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (04) : 1935 - 1940
  • [12] MICHAELIDES K, 1995, PCR, V2, P255
  • [13] A molecular model for the triplicated a domains of human factor VIII based on the crystal structure of human ceruloplasmin
    Pemberton, S
    Lindley, P
    Zaitsev, V
    Card, G
    Tuddenham, EGD
    KemballCook, G
    [J]. BLOOD, 1997, 89 (07) : 2413 - 2421
  • [14] MOLECULAR-CLONING OF A CDNA-ENCODING HUMAN ANTIHEMOPHILIC-FACTOR
    TOOLE, JJ
    KNOPF, JL
    WOZNEY, JM
    SULTZMAN, LA
    BUECKER, JL
    PITTMAN, DD
    KAUFMAN, RJ
    BROWN, E
    SHOEMAKER, C
    ORR, EC
    AMPHLETT, GW
    FOSTER, WB
    COE, ML
    KNUTSON, GJ
    FASS, DN
    HEWICK, RM
    [J]. NATURE, 1984, 312 (5992) : 342 - 347
  • [15] Tuddenham E G, 1994, Nucleic Acids Res, V22, P4851, DOI 10.1093/nar/22.22.4851
  • [16] HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE
    TUDDENHAM, EGD
    COOPER, DN
    GITSCHIER, J
    HIGUCHI, M
    HOYER, LW
    YOSHIOKA, A
    PEAKE, IR
    SCHWAAB, R
    OLEK, K
    KAZAZIAN, HH
    LAVERGNE, JM
    GIANNELLI, F
    ANTONARAKIS, SE
    [J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (18) : 4821 - 4833
  • [17] Tuddenham EGD, 1994, MOL GENETICS HAEMOST
  • [18] The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS
    Wacey, AI
    KemballCook, G
    Kazazian, HH
    Antonarakis, SE
    Schwaab, R
    Lindley, P
    Tuddenham, EGD
    [J]. NUCLEIC ACIDS RESEARCH, 1996, 24 (01) : 100 - 102
  • [19] EXPRESSION OF ACTIVE HUMAN FACTOR-VIII FROM RECOMBINANT DNA CLONES
    WOOD, WI
    CAPON, DJ
    SIMONSEN, CC
    EATON, DL
    GITSCHIER, J
    KEYT, B
    SEEBURG, PH
    SMITH, DH
    HOLLINGSHEAD, P
    WION, KL
    DELWART, E
    TUDDENHAM, EGD
    VEHAR, GA
    LAWN, RM
    [J]. NATURE, 1984, 312 (5992) : 330 - 337
  • [20] The X-ray structure of human serum ceruloplasmin at 3.1 angstrom: Nature of the copper centres
    Zaitseva, I
    Zaitsev, V
    Card, G
    Moshkov, K
    Bax, B
    Ralph, A
    Lindley, P
    [J]. JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY, 1996, 1 (01): : 15 - 23