Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature

Table 1 Prediction of protein function using different softwares

Gene	Polyphen-2_HDIV		Polyphen-2_HVAR		MutationTaster		FATHMM		M-CAP
	Score	Prediction	Score	Prediction	Score	Prediction	Score	Prediction	Score	Prediction
MSH6	0.670	Possibly damaging	0.411	Benign	1	Disease causing	-2.12	Damaging	-	-
APC	0.156	Benign	0.026	Benign	0.737	Disease causing	-2.47	Damaging	0.046	Damaging

Table 2 Prediction of amino-acid residue conservatism

Gene	Exon	Protein	Coding	GERP++		PhyloP
				Score	Prediction	Score	Prediction
MSH6	6	p.Glu1163Val	c.3488A > T	5.23	Conserved	8.923	Conserved
APC	16	p.Met2221Thr	c.6662T > C	6.02	Conserved	3.925	Conserved