Skip to main content

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 IDc.DNA changeAmino acid changeZygositymCSM (Kcal/mol)SDM (Kcal/mol)DUET (Kcal/mol)Prediction
10c.G1556 Tp.C519FHomozygous−1.125−0.55−1.133Destabilizing
25c.A217Tp.I73FHomozygous−1.141−0.25−1.095Destabilizing
  1. Gibbs free energy change: destabilizing (< 0 kcal/mol) and stabilizing (> 0 kcal/mol)
  2. mCSM = mutation cutoff scanning matrix
Back to article page

Eye and Vision

ISSN: 2326-0254