Fig. 7
Prediction and analysis of the 3D structure of the TSC1 protein. (a) The protein structure diagram of TSC1. (b) The local amino acid structure diagram of lysine 121 (121 LYS). The mutation occurs at the 363rd base, resulting in the insertion of a 92-base sequence into the intron between the 121 st and 122nd amino acids. (c) The predicted protein structure diagram of the TSC1 c.363 + 668G > C mutation. The red area in the diagram highlights the mutation site and the altered amino acid sequence structure. As a result, translation of the TSC1 protein continues for 26 additional amino acids before terminating prematurely. (d) The local amino acid structure of asparagine 121 (121 ASN) after the mutation. The 121 st amino acid is altered from lysine to asparagine. (e) Comparison of the structures of the TSC1 c.363 + 668G > C mutant protein and the wild-type TSC1 protein. The mutated TSC1 protein is significantly truncated.
