<i>In silico</i> analysis of the effect of CDH13 variants.

The analysis was based on the protein sequence. SIFT scores below 0.05 were considered damaging. I-mutant-3.0 predicted the effects of the variants on protein stability by calculating the unfolding Gibbs free energy value of the mutant proteins minus that of the wild type protein (ΔΔG = ΔG mutant – ΔG wild type), given in kcal/mol. A negative change indicates decreased stability. The reliability index (RI) for a large decrease (ΔΔG<−0.5) ranged from 0–10. For the G113R* a reliability index for a neutral stability change was given. Ternary classification (SVM3) −0.5< = ΔΔG< = 0.5 corresponds to neutral stability, ΔΔG<−0.5 to large decrease of stability and ΔΔG >0.5 to a large increase of stability.