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Table 3 Prediction of protein stability changes due to missense variant in ABCA4

From: Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Case ID c.DNA change Amino acid change Zygosity mCSM (Kcal/mol) SDM (Kcal/mol) DUET (Kcal/mol) Prediction
10 c.G1556 T p.C519F Homozygous −1.125 −0.55 −1.133 Destabilizing
25 c.A217T p.I73F Homozygous −1.141 −0.25 −1.095 Destabilizing
  1. Gibbs free energy change: destabilizing (< 0 kcal/mol) and stabilizing (> 0 kcal/mol)
  2. mCSM = mutation cutoff scanning matrix
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