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Fig. 3 | BMC Medical Genetics

Fig. 3

From: The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

Fig. 3

Details about the novel mutation c.G924A (p.W308*). a Sanger sequencing showed a heterozygous mutation. b The structure of STK11 gene. The mutation is located in exon 8. c Schematics of the secondary structure or functional domains of the STK11 protein. The mutant protein results in a partial loss of kinase domain and a complete loss of the C-terminal domain compared to the wild type. NLS, Nuclear localization signal, NRD or CRD, N- or C-terminal regulatory domain. d Evolutionary conservation of amino acid residues altered across different species. e The mutant proteins was predicted to result in partial loss of the kinase domain and complete loss of the C-terminal domain of the a-helix (which is labelled using green gaps in the wild type protein) by Swiss-Model online software (http://swissmodel.expasy.org/) compared to the wild type (for which the 3D template model used was 2wtk.2.C) [46]

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