Fig. 2
From: A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome
Sequencing results and bioinformatic analysis of the gene mutation. A Sanger sequencing results of the variants. A heterozygous mutation c.521 A > C transition, causing the substitution of histidine by proline at codon 174 (NM_000455). B The gene structure of STK11. c. 521 A > C (p.H174P) is located in exon 4 within the kinase domain. C Score of the novel damaging mutation c.521 A > C (p.H174P) in PolyPhen-2. D Evolutionary conservation showed that the variable site p.H174P was highly conserved across different species. E Protein structure prediction of wild-type and mutant STK11 is displayed