Fig. 2

Identification of a nonsense mutation detected in the TP53 gene of ESS-1 cells. a Depiction of the nucleotide sequence of exon 6 of TP53 and the deduced encoded amino acid sequence of the p53 protein. Presented is the wildtype (WT) and the mutated sequence with a C>T transition in nucleotide position 637 of ESS-1 cells (ESS-1). The point mutation leads to the formation of a premature stop (TGA) codon at amino acid residue 213. b Nucleotide sequence traces of MES-SA (left box) and ESS-1 cells (right box) demonstrating the wild-type or mutated sequence (red arrow) presented in the shaded box in a, respectively. c Schematic representation of the p53 protein with its domains (not drawn to scale) and indication of the N-(N) and C-terminal c end. The R213X non-sense mutation is located at the N-terminal end of the DNA binding domain (DBD) of the p53 protein. As a consequence, a resulting truncated p53 protein would lack ~ 180 out of 393 amino acids at the C-terminal end