Fig. 2
From: A rare large duplication of MLH1 identified in Lynch syndrome
Graphic representation of the MLH1 structure describing the consequences and location of the MLH1 duplication and the frameshift variant. (a) MLH1 duplication of exons 4–13 in family A leads to a frameshift at amino acid 520 and a premature stop codon at amino acid 539. (b) MLH1 frameshift variant at amino acid 425 in family B leads to a premature stop codon at amino acid 491. Both variants lead to the deletion of the MLH1 C-terminal domain, which is needed for the MLH1-PMS2 heterodimerization