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Fig. 5 | Journal of Translational Medicine

Fig. 5

From: Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

Fig. 5

Mapping the likely outcomes of the mutation (p.Q518X) on the structure of the MutSalpha DNA lesion recognition complex. a The association between MSH6 and MSH2 proteins which dimeric form is capable of recognizing the damaged DNA is called MutSalpha. b Corresponds to the MSH2 protein in which we mapped the function segments downstream the stop codon insertion in dark blue. This results in loss of interaction between the two proteins (MSH2/MSH6) and a default of heterodimer formation (protein-protein interaction loss, DNA-protein interaction loss and nuclear translocation activity loss)

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