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Update of von Willebrand Factor Gene Defects from the ISTH VWF Web Site

Update of von Willebrand Factor Gene Defects from the ISTH VWF Web Site. Anne Goodeve and Nick Beauchamp University of Sheffield, UK Ross MacLachlan and David Lillicrap Kingston, Canada. http://www.shef.ac.uk/vwf. VWD Type in 307 Entries. 1. U. 2A. 3. 2B. 2N. 2M. Type 1 VWD, n=14.

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Update of von Willebrand Factor Gene Defects from the ISTH VWF Web Site

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  1. Update of von Willebrand Factor Gene Defects from the ISTH VWF Web Site Anne Goodeve and Nick Beauchamp University of Sheffield, UK Ross MacLachlan and David Lillicrap Kingston, Canada

  2. http://www.shef.ac.uk/vwf

  3. VWD Type in 307 Entries 1 U 2A 3 2B 2N 2M

  4. Type 1 VWD, n=14 • 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

  5. Type 2A VWD, n=71

  6. Common Type 2A VWD Mutations

  7. Type 2B VWD, n=52 • Exon 28 • Codons 1266-1461 • A1 domain • 1 insertion mutation (1304insM) • 16 different missense mutations at 10 amino acids

  8. Common Type 2B VWD Mutations

  9. Type 2M; n=18 • 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

  10. Type 2N; n=37 • Ex18-24 • Codons 782-1060 • D’ and D3 domains • 16 different missense changes at 15 amino acids (R816W, R816Q)

  11. Common Type 2N VWD Mutations

  12. Type 3 VWD, n=85 • Mutations throughout VWF

  13. Type 3 VWD Mutation Type 2435delC x6 dinucleotide from repeat x3 Splice Small deletion all unique Large deletion 42, 23-52, all VWF x3 Insertion 5/6 into C or T run Nonsense Missense R1659X, n=5 R2535X, n=4 D141N D141Y

  14. “Unclassified” VWD • 30 entries • 1 large deletion Ex 26-34 • 1 deletion 3 nt (2 aa substitution) • 1 insertion 105 nt (sequence duplication) • 27 missense

  15. “Unclassified” VWD, n=30

  16. Splice Large del Small del Nonsense Insertion Missense VWF Mutation Type in 307 Entries

  17. Location of 307 VWF Mutations 2 3-10 11-17 18-20 20-28 28 28 28-32 33-34 35-39 40-42 -44 45-48 49-52 SD1 D2 D’ D3 A1 A2 A3 D4 B1-B3 C1 C2 CK D’-D3 21 D1-D2 12 D4-CK 11 % of 307 mutations A 54 Large deletions 2%

  18. Send suggestions/comments/mutations/polymorphisms to the database manager n.j.beauchamp@shef.ac.uk • Complete form at this meeting, pass to Anne Goodeve/ post / Fax to Sheffield

  19. Acknowledgements • Aventis • David Lillicrap • Ross MacLachlan • Nick Beauchamp - database manager

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