Figure 4

Sequence data pertaining to the novel MLH1 mutation found in the proband. A two-nucleotide 5'-CA-3' insertion (box) between base pair positions 866 and 867 leads to nonsense coding of amino acid residues and predicted truncation of the protein product (c.866_867insCA). Note: due to the palindromic nature of the insertion site, the insertion may also be classified as a 5'-AC-3' insertion between base pairs 867 and 868.