ISTH mutations
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Exon No
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
28 100 Unclassified 4121G>A R1374H No Netherlands Bertina Mutation associated with thrombocytopenia after DDAVP but phenotypically type 1 More ... Castaman et al, 1995
28 Unclassified 4121G>A R1374H Yes France Mazurier Hilbert et al, 1995b
28 20 Type 1 (Type 2A) 4121G>A R1374H No EU MCMDM-1VWD Mutation associated with an abnormal multimer pattern. Both index cases identifi More ... Goodeve et al., 2007
28 200 Type 2A 4121G>A R1374H No Spain Vidal VWF:Ag 43%, VWF:RCo 7%, FVIII:C 42%, ABO A blood group. Multimeric patterns comp More ... Corrales et al., 2009
28 100 Type 2A 4121G>A R1374H No Spain Batlle VWF:Ag 21.7 IU/dL, VWF:RCo 5 IU/dL, VWF:CB 13 IU/dL, FVIII:C 37 IU/dL. PFA >300 More ...