ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
45	2	Unclassified	7599T>A	C2533X	No	China	Prof. Hongli Wang	VWF:Rcof 4%; VWF:CB 5%; VWF:Ag 10%
Deletion exons 26-34	158	Unclassified	3380-298_5843-1385del	P1127_C1948delinsR	No	Italy	Bernardi	Result of Alu-mediated homologous recombination. This mutation is associated wit More ...	Bernardi et al., 1990; Bernardi et al., 1993
28		Unclassified	3702T>G	C1234W	No	France	French Network
43		Unclassified	7408C>T	Q2470X	No	France	French Network	Mutation could be associated with type 2M.	Hilbert et al., 2002
28		Unclassified	4120C>A	R1374S	No	France	French Network
28	110	Unclassified	4135C>T	R1379C	?	Spain	Casana		Casaņa et al, 2001
28		Unclassified	4120C>T	R1374C	Yes	France	Mazurier		Hilbert et al, 1995b
15	2	Unclassified	1730-2A>G	Not Applicable	No	China	Prof. Hongli Wang	Splice site mutation results in deletion of exon 15. Patient heterozygous. VWF:R More ...
27		Unclassified	3614G>T	R1205L	Yes	France	French Network	The R1205H mutation is reported as type 2M Vicenza (Schneppenheim et al Thromb H More ...	Gaucher et al, 1997; de Romeuf et al, 1997
52	2	Unclassified	8416T>C	C2806R	Yes	USA	Montgomery	VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 band on multimer gel