Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome

Figure 2

Diagrammatic representation of hMLH1 gene with novel mutation. The deletion c.2044_2045 mutation at p.682 described causes a premature stop as highlighted in red. Exons are depicted in blue. The regions encoding functional domains are represented by grey boxes [22].