From: De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD
Age/Sex | VWD classification | Exon No. (domain) | Nucleotide substitution | Amino acid substitution | VIII:C (IU/dL) | VWF:Ag (IU/dL) | VWF: Act (IU/dL) | Family history and affected sibling in the family |
---|---|---|---|---|---|---|---|---|
8/F | Type 2A | 28 (A2) | c.4517 C → T | p.Ser1506 Leu | 53 | 38.5 | 10 | None |
12/F | Type 2B | 28 (A1) | c.3916 C → T | p.Arg1306Trp | 27 | 50 | 7.5 | None |
10/F | Type 2B | 28 (A1) | c.3922 C → T | p.Arg1308Cys | 31 | 35.9 | 4.5 | None |
7/Fa | Type 2M | 28 (A1) | c.3827T → G | p.Leu1276Argb | 28 | 26 | 6 | None |