Fig. 4
From: A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
A schematic representation of PDZD7 and structural analysis of the normal and mutant variants. The 3D structural models were constructed by SWISS-MoDEL and viewed with PyMol software. As it is locally zoomed (at 12 Angstrom) the position of mutation (residue 84 that highlighted in red) makes a complete round of alpha-helix structure in normal protein (a). As shown by a yellow arrow, substitution of isoleucine to threonine at position 84 resulted in formation of a truncated alpha-helix in mutant PDZD7 protein (b)