Predicted truncated FV molecules as encoded by the FV frameshift and nonsense mutations detected in this study.

Schematic representation shows the 25 exons of the FV gene and the procoagulant protein that consists of a heavy chain (A1-A2), a connecting region or B domain, and a light chain (A3-C1-C2). The position of the mutation in the gene and in the DNA sequencing electropherogram as well as the predicted premature translation stop in the protein are indicated by arrows. The 3 cytosines resulting from the 1-bp deletion in patient 2 are underlined. Dashed lines in the protein indicate the part that is lacking, as compared to the wild-type protein. Patient 1: heterozygous 8-bp deletion between nts 1130 and 1139 in exon 7 leading to a premature stop at codon 351. Patient 2: homozygous 1-bp deletion between nts 4291 and 4294 in exon 13 leading to a premature stop at codon 1381. Patient 3: homozygous C→T nonsense mutation at nt 2491 in exon 13, changing the codon for glutamine at residue 773 into a stop codon. Patient 4: heterozygous A→T nonsense mutation at nt 1102 in exon 7, changing the codon for lysine at residue 310 into a stop codon. W: A or T