Figure 2
Structural basis for the pathogenicity of MLH1 missense variants. Ribbon diagrams showing the structural consequences of (a) c.83C>T (p.Pro28Leu) and (b) c.464T>G (p.Leu155Arg). The figure is colored as in Fig. 1, with the exception that structural elements outside the core Bergerat fold are colored cyan. Important amino acids around the mutation are represented as sticks. The mutation is colored grey. Red circles represent steric clashes with surrounding parts of the structure. For clarity, the transducer domain is omitted from both figures. |