[Retracted] A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development

Figure 3

Analysis of the TUBG1:c.751A>T; p.N251Y mutation. (a) Sanger sequencing of the child suggested a de novo mutation in the proband. (b) TUBG1 gene c.751A>T p.N251Y protein conservation analysis diagram. (c) Three-dimensional structures of TUBG1 (WT) and TUBG1 (p.N251Y) protein. (A) Complete protein structure of TUBG1 predicted by ModellerV2.0 and visualized with SAVES5.0. (B) The structures of p.251N and p.251Y are presented as purple sticks. The p.N251Y mutation turn forms the structure from an extended strand to a random coil as confirmed by the secondary structure prediction of TUBG1 using the online HNN program. This system encompasses a neural network algorithm for secondary structure prediction. The ‘h,’ ‘e,’ and ‘c’ descriptors indicate the alpha helix, beta sheet, and random coil, respectively.

(a)

(b)

(c)