Patients VWD Type Nucleotide Exchange AA Exchange Domain VWF:Ag IU/dL VWF:Rco IU/dL FVIII:C IU/dL Multimer Pattern
IP-1
2A/2B
c.164G>A c.4019T>G p.Gly55Glu p.Leu1340Arg D1 (VWD1) A1
12
7
42
Loss of large multimers, normal triplet structure
IP-2 3 c.257T>A p.Val86Glu D1 (VWD1) 1 1 3 No multimer
IP-3
2A/2B
c.571T>C c.3797C>T p.Trp191Arg p.Pro1266Leu D1 (VWD1) A1
29
16*
74
Loss of large multimers, increased abundance of the fastest migrating band in the triplet structure
IP-4
3
c.631A>G c.3931C>T p.Asn211Asp p.Gln1311X D1 (C8-1) A1
1
2
3
No multimer
IP-5
1/2N
c.1001G>A c.970C>T c.2561G>A p.Gly334Glu p.Arg324X p.Arg854Gln D1 (TIL1) D1 (TIL1) D´ (E´)
35
39
22
Normal
IP-6 3 c.1824C>G p.Cys608Trp D2 (C8-2) 1 1 4 No multimer