ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
17	536	Type 2M	2220G>A	M740I	No	Italy	Rodeghiero		Castaman et al, 2000
20	424	Type 2N	2561G>A	R854Q	No	Netherlands	Bertina	All patients heterozygous, second allele no mRNA in 1, stopcodon R2535* in 2 and More ...	Eikenboom et al, 1993
21	376	Type 2N	2771G>A	R924Q	Yes	Argentina	Lazzari	Previously reported as a polymorphism (Hilbert et al., 2003). Observed in 2 rela More ...	Casais et al., 2006
Deletion exons 04-05	310	Type 1 / 3	221-977_532+7059del	D75_G178del	Yes	England	University Department of Haematology, Manchester	Result of Alu-mediated homologous recombination. VWF:Ag 23 IU/dL, VWF:RCo 21 IU/ More ...	Sutherland et al., 2009
20	304	Type 2N	2561G>A	R854Q	Yes	Argentina	Lazzari
30	300	Unclassified	5191T>A	S1731T	Yes	France	French Network	New variant of VWD with a defective binding of VWF to collagen.	Ribba et al., 2001
18	226	Type 2N	2365A>C	T789P	No	Iran		Mutation found to be homozygous in affected individuals. Heterozygous carriers w More ...	Enayat et al., 2010
21	220	Type 1	2820+1G>C	N/A	Yes	EU	MCMDM-1VWD	Mutation results in the skipping of exon 21 & is associated with an abnormal mul More ...	Goodeve et al., 2007
2	218	Type 1	55G>A	G19R	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern.	Goodeve et al., 2007
Promoter	218	Type 1	-1896C>T	N/A	No	EU	MCMDM-1VWD	103 control samples were screened for this mutation. It was found to be absent f More ...	Goodeve et al., 2007

 

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