Mutations responsible for FV deficiency identified in the analyzed patients. (A) Position of the identified mutations on FV gene and protein. In the schematic representation of F5, exons are represented by boxes, introns are drawn (not to scale) as lines, and mutations are named on the basis of the DNA alteration involved (numbering according to Jenny et al34 ). In the lower part of the panel, FV protein is shown with its domain structure. Mutations are named on the basis of the predicted effects at the amino acid level (numbering refers to the mature protein); * and ‡ mark previously reported mutations.20,32,33 (B) Predicted effects of the 2 frameshift mutations. The 5127-5128insA mutation introduces a frameshift with an aberrant sequence of 7 amino acids (bolded) followed by a PTC at codon 1659 of the mature protein. The 6122-6123insAACAG mutation results in a frameshift with an aberrant sequence of 6 amino acids and a PTC at position 1989. For both mutations, the inserted nucleotides are underlined.
