Appendix 6 of
Cevik, Mol Vis 2023; 29:217-233.
Appendix 6. Supplementary Figure S3.
To access the data, click or select the words “Appendix 6.” ΔΔG variant profiles from eight measurement sources. The plot shows the in silico ΔΔG values calculated by the FoldX plugin in YASARA software [40,41], using the mutagenesis option for 10 missense variants in the study based on the seven available cryo-EM structures of human ABCA4 and AlphaFold2-generated full-length ABCA4 wild-type protein model. The complex alleles found in the patient cohort have been analyzed both separately for each variant and for the variant protein having the two variants together to detect possible combinatorial effects of these variants; however, no alleviating or augmenting effect was observed in this analysis. Seven ΔΔG values are missing due to the Arg-212 residue not being available in the 7lkp, 7m1p, and 7lkz structures and the Gly-1961 and Glu-2233 in the 7mlq structure.