ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
20	304	Type 2N	2561G>A	R854Q	Yes	Argentina	Lazzari
20	80	Type 2N	2561G>A	R854Q	No	Spain	Casana
20		Type 2N	2561G>A	R854Q	?	Germany	Schneppenheim	Four patients from 4 families were homozygous for R854Q. Six patients from 3 fam More ...	Schneppenheim et al, 1996a
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
20	198	Type 2N	2561G>A	R854Q	Yes	England	Peake	Both patients are homozygotes.
20		Type 2N	2561G>A	R854Q	Yes		Mazurier	The patients from unrelated families are compound heterozygotes for R854Q and R8 More ...	Mazurier, 1992
20		Type 2N	2561G>A	R854Q	Yes	France	Mazurier	Patients are heterozygotes for the mutation, the second gene defect is not ident More ...
20		Type 2N	2561G>A	R854Q	No				Lavergne et al, 1992
20		Type 2N	2561G>A	R854Q	No			Heterozygote; other allele not expressed at mRNA level.	Peerlinck et al, 1992
20		Type 2N	2561G>A	R854Q	Yes	USA	Montgomery		Kroner et al, 1991b