1 research outputs found
Additional file 1: Figure S1. of Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
Polyphen-2 reports for the pathogenicity of the mutant amino acid residues in STK11. The amino acid substitution p.Ala241Pro was valued “PROBABLY DAMAGING” with the score 0.999 (HumDiv) and 0.971 (HumVar). (TIF 95 kb