Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer

Table 6 STK11 mutations associated with colorectal cancer caused by peutz-jeghers syndrome

STK11 mutation	Mutation type	Effect on protein	Ref.
c.511 G > A	Missense mutation	G171S	Dong et al[127]
c. 595 G > A	Missense mutation	E199K	Dong et al[127]
c.622 G > A	Missense mutation	D208N	Dong et al[127]
c.644 G > A	Missense mutation	G215D	Dong et al[127]
c.941 C > A	Missense mutation	P314H	Resta et al[128]
c.1062 C > G	Missense mutation	F354L	Dong et al[127]
c.1100 C > T	Missense mutation	T367M	Dong et al[127]
c.842delC	Frameshift mutation	truncates	Dong et al[127], Bartosova et al[129]
IVS2 + 1A > G	Intronic splice site mutation		Bartosova et al[129]
OR4C45 c.767-768insAG	Frameshift mutation	truncates	Wang et al[121]
ZAN c.5767insG	Frameshift mutation	truncates	Wang et al[121]