ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
32	100	Type 1	5545G>A	V1850M	No	England	UKHCDO	This mutation did not completely segregate with the disease phenotype in the stu More ...	Cumming et al., 2006
24	206	Type 1	3179G>A	C1060Y	No	EU	MCMDM-1VWD	Mutation heterozygous. VWF:Ag 36IU/dL, VWF:RCo 28IU/dL, FVIII:C 39IU/dL, VWF:FVI More ...	Hampshire et al., 2010
37	212	Type 1	6433C>T	P2145S	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern. Mutation identified in famil More ...	Goodeve et al., 2007
25	6	Type 1	3281T>C	I1094T	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern.	Goodeve et al., 2007
37	2	Type 1	6311C>T	T2104I	No	Canada	Lillicrap		James et al., 2007
36	10	Type 1	6187C>T	P2063S	No	Canada	Lillicrap	Occurred with a frequency of 0.25 in unaffected family members.	James et al., 2007
25	2	Type 1	3332G>A	C1111Y	No	Canada	Lillicrap		James et al., 2007
25		Type 1	3379+1G>A	N/A	No	England	UKHCDO		Cumming et al., 2006
26		Type 1	3430T>G	W1144G	Yes	USA	Montgomery	By virtue of mutation, VWF clearance is less than 3 hours.	Haberichter et al., 2006
35	200	Type 1	5890C>A	Q1964K	No	Spain	Vidal	VWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Patient also has a mild FXII deficiency (3 More ...