ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
19		Type 2N	2446C>T	R816W	?	Germany	Schneppenheim	One homozygous patient from one family. One other family member is heterozygous More ...
19		Type 2N	2446C>T	R816W	No	USA		Information contributed by M. Daly. Both patients homozygous. Same family previo More ...
19	100	Type 2N	2446C>T	R816W	Yes	France	Mazurier / Sadler	This group also identified a type 2N VWD patient found to be compound heterozygo More ...	Gaucher et al., 1991; Jorieux et al., 1992
19	14	Type 2N	2446C>T	R816W	No	Turkey	Caglayan	2 sisters and 1 brother all homozygous for mutation
19	14	Type 2N	2446C>T	R816W	No	Turkey	Caglayan	Homozygous
19	6	Type 1	2446C>T	R816W	No	EU	MCMDM-1VWD	Mutation associated with a normal multimer pattern.	Goodeve et al., 2007
19	2	Type 2N	2446C>T	R816W	No	Brazil	Hemocentro UNICAMP	The patient has a history of bleeding following trauma and has been recorded wit More ...
19	200	Type 2N	2446C>T	R816W	No	Spain	Vidal	Homozygous mutation. VWF:Ag 116%, VWF:RCo 106%, FVIII:C 6%, ABO A blood group.	Corrales et al., 2009
19	200	Type 2N	2446C>T	R816W	No	Spain	Vidal	Compound heterozygous mutation found in trans with mutation p.Q1154X. VWF:Ag 93% More ...	Corrales et al., 2009
19	40	Type 2N	2446C>T	R816W	No	Spain	Batlle	Homozygous mutation. VWF:Ag 69 IU/dL, VWF:RCo 69 IU/dL, FVIII:C 8.1 IU/dL. Norma More ...