ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
3	80	Type 3 (Type 1)	100C>G	R34G	No	Turkey	Peake	Heterozygotes for this mutation had a type 1 VWD phenotype. Family was supplied More ...
3	200	Type 3	100C>T	R34X	No	Spain	Vidal	Homozygous mutation.	Corrales et al., 2009
9		Type 2N	1071C>A	Y357X	No	France	Mazurier		Mazurier et al., 2002
9	108	Type 3	1093C>T	R365X	No	Iran / Italy	Federici / Mannucci	One patient (Iran) homozygous, and one (Italy) compound heterozygous with mutati More ...	Baronciani et al., 2003
9		Type 3	1093C>T	R365X	No	France	Meyer		Bahnak et al., 1991
9	206	Type 1	1109+2T>C	N/A	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern.	Goodeve et al., 2007
10	108	Type 3	1110-1G>A	N/A	No	Iran	Federici / Mannucci	Patient homozygous for the potential splice site mutation (located at position 7 More ...	Baronciani et al., 2000
10	108	Type 3	1117C>T	R373X	No	India	Federici / Mannucci	Patient homozygous for the nonsense mutation and of consanguineous descent.	Baronciani et al., 2000
10	40	Type 3	1131G>T	W377C	?	Germany	Schneppenheim	Candidate missense mutation; the patient was homozygous.	Schneppenheim et al., 1994
11		Type 2A	1212ins6 (AATCCC)	F404insNP	Yes	Sweden	Holmberg	Patient also compound heterozygote for a null allele	Holmberg et al, 1998