Fig. 3

Location and structural illustration of novel missense mutations in the 3D structure of the protein. (A) The CBS mutation (c.407T > C, p.L136P) and the inset provides a detailed view of the mutation site, highlighting the substitution at position 136 from the hydrophobic amino acid leucine to the hydrophilic, cyclic amino acid proline. (B) The LTBP2 mutation (c.3854G > A, p.C1285Y), with the inset depicting the side-chain transition at position 1285 from the nonpolar cysteine to the polar tyrosine. (C) The COL4A5 mutation (c.3940 C > T p.P1314S) and the inset is zoomed into the mutation site, demonstrating the exchange at position 1314 from the nonpolar amino acid proline to the polar amino acid serine. (D) The ASPH mutation (c.2075G > A p.G692D) and the inset is focused on the mutation site, showing the substitution at position 692 from the nonpolar glycine to the negatively charged, polar aspartic acid