Figure 4. Schematic representation of S797P substitution in the LAMG domain of the CRB1 336 gene. A: Modeling of LAMG 2 (amino acids from 735 to 860) using Phyre2 showed 337 that S797 (wild type in blue) is located in beta-sheet
and has polar contacts with L739 (in 338 orange) and Y808 (in orange) which are also located in the beta-sheet of the second
laminin G-339 like domain. Substitution of proline at position 797 (mutant type in red) is conducive to the beta-340 sheet.
B: It can hinder the binding of other proteins or result in destabilization of the protein 341 structure and protein folding.
C: Schematic presentation of the G607R substitution in the ABCA4 342 gene. Wild-type residue glycine in blue and mutated residue
arginine in red are shown at position 343 607.