Fig. 2

Pathogenic proximity scores in RTEL1 are correlated with decreased ATPase activity in mutagenesis studies of the homologous XPD protein. Pathogenic proximity scores were calculated for each missense mutation (N = 25) using their position relative to known pathogenic and neutral missense variants in RTEL1. a Pathogenic proximity was significantly correlated with a decrease in ATPase activity (Pearson r = −0.65, p = 0.0004), but b not significantly correlated with changes in helicase activity (Pearson r = −0.36, p = 0.08) in the homologous XPD protein