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ISTH VWF SSC Information Homepage

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Summary of Mutations on the VWF Mutation Database (June 2004)

These data were presented by Dr. Anne Goodeve at the SSC Subcommittee meeting in Venice on the 18th June 2004. A PowerPoint version of the presentation can be downloaded here.

(Search for mutations in the human VWF gene sorted by nucleotide number and by association with type of von Willebrand disease (VWD))

Type 1

  • 2 small deletions (frameshift)
  • 1 nonsense mutation
  • 11 missense mutations:
    • Ex 26, 28 and 52
    • Codons 1130-2776
    • C1130F; n=1
    • C1149R; n=1
    • T1156M; n=2
    • Y1584C; n=1

Type 2A

  • 71 Mutations reported:
  • Subtype
    Exon
    Domain
    Codons
    No. reports
    IIC
    12-16
    D2
    404-625
    7
     
    18
    D'
    771fs
    1
     
    28
    A1
    1272-1383
    7
     
    28
    A2
    1503-1672
    53
    IID
    52
    CK
    2773fs
    1
    IIE
    52
    CK
    2773-2801
    2
    Total
     
     
     
    71

  • Common Type 2A VWD Mutations:
  • Amino Acid Change
    No. Reports
    % of 71 type 2A
    S1506L
    8
    11
    R1597Q
    4
    6
    R1597W
    9
    13
    G1609R
    3
    4
    Total
    24
    34

Type 2B

  • 52 mutations reported
  • All in exon 28
  • Codons 1266-1461
  • A1 domain
  • 1 insertion mutation (1304insM)
  • 16 different missense mutations at 10 amino acids
  • Common type 2B mutations:
  • Amino Acid Change
    No. Reports
    % of 52 type 2B
    R1306W
    10
    19
    R1308C
    6
    12
    V1316M
    9
    17
    R1341Q
    7
    13
    Total
    32
    61

Type 2M

  • 18 mutations reported
  • Ex 18, 27 and 28 (n=16)
  • D', D3 and A1 domains
  • Codons 788, 1205 and 1279-1467
  • No common mutations reported
  • I1425F reported twice

Type 2N

  • 37 mutations reported
  • Ex18-24
  • D' and D3 domains
  • Codons 782-1060
  • 16 different missense changes at 15 amino acids (R816W, R816Q)
  • Common type 2N mutations:
  • Amino Acid Change
    No. Reports
    % of 37 type 2B
    T791M
    5
    14
    R816W
    4
    11
    R854Q
    12
    32
    Total
    21
    57

Type 3

  • Mutations throughout VWF

Unclassified

  • 30 entries
  • 1 large deletion Ex 26-34
  • 1 deletion 3 nt (2 aa substitution)
  • 1 insertion 105 nt (sequence duplication)
  • 27 missense mutations:
  • Exon
    Domain
    Amino Acid Change
    No. reports
    Phenotype
    25-26
    D3
    1101-1196
    7
    2Q Bern in 1
    27
    D3
    R1205H/L
    2
    Vicenza
    28
    A1
    R1374C/H/L/S
    5
     
    30
    A1
    S1371T
    1
    Decreased collagen binding
    38
    D4
    L2207P
    1
     
    52
    CK
    C2806R
    1
    Dimer defect


This page is maintained by Dan Hampshire
of the School of Medicine and Biomedical Sciences at the University of Sheffield
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