Fig. 5: Intramolecular interactions of novel HGD missense variants calculated using Arpeggio28.
From: A novel deep intronic variant strongly associates with Alkaptonuria
The sidechain of Thr196 (A) makes a series of hydrogen bonds to neighboring residues, which would be lost upon variant to Ile (B). A variant of the positive phi Gly362 (C) to Arg (D) would lead to large steric clashes within the structure of HGD. This highlights that both variants would lead to significant structural consequences and be quite deleterious. The wild-type residues are shown as green sticks, and the mutant residue is in magenta sticks. Hydrogen bonds are shown as red dashed lines, polar interactions as orange dashed lines, hydrophobic interactions as green dashed lines, and steric clashes as red disks.
