Fig. 2.

Localization of the Q192H mutation and predicted effect on protein structure. a Predicted membrane topology of hMTPPT protein and location of the Q¹⁹²H clinical mutation. The hMTPPT is predicted to have six potential TMDs. Arrows indicate the location of clinical mutation Q192H. b Conservativeness of the amino acid at position 192 of the hMTPPT among different species. The polypeptide sequence of MTPPT from human (NP_001119594), pongo (NP_001127123), bovine (NP_001039352), mouse (NP_001239313), rat (NP_001007675), and yeast (NP_011610) were aligned using PRALINE program. Conserved and unconserved residues are indicated by red to blue colors, respectively; location of the clinical mutation (in the fourth TMD at position 192) is shown by dotted box. c Structural comparison of the Q¹⁹²H clinical mutant and the WT hMTPPT. The 3D structure of hMTPPT (green color) and its clinical mutant (pink color) was generated based on the PDB ID entry 1OKC (i.e., a crystal structure of the mitochondrial ADP/ATP carrier in complex with carboxyatractyloside) and superimposed both the 3D structure. The structural changes are indicated by black arrow