|
|
|
Figure 6
Superposition of the TANGO2 crystal structure with the AlphaFold3-predicted structures of pathogenic TANGO2 variants: G154R, T74P, G89C, R26K and F5 deletion. (a) The positions of the TANGO2 pathogenic mutations. The yellow circle represents a sphere with a 6.5 Å radius from the N-terminal Cys2. All of the disease-causing mutations are within the sphere, except that G89C is 8.62 Å and G154R is 11.82 Å from the N-terminal Cys2. The side chains of G154R, T74P, G89C and R26K are shown in stick representation; the side chain of the N-terminal cysteine is shown in the structure of the F5 deletion variant. (b) In the predicted G89C mutant structure, the side chains of Asp51 and Lys56 are located close to the introduced cysteine residue. This spatial arrangement resembles the configuration of the putative active site, which includes Cys2, Asp27 and Asn157. The G89C mutation may create a pseudo-active site leading to misrecognition or mispositioning of substrates. |

journal menu![[Figure 6]](ag5063fig6.jpg)
access


