Skip to main content

Table 2 List of small mutations detected in the course of the study

From: High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11gene in patients with Peutz-Jeghers syndrome

Exon Nucleotide change Codon Aminoacid change Number of families
1 c.157_158dupG [16] 53 p.Asp53Glyfsx110 1
c.160_161insC* 54 p.Leu54ProfsX109 1
c.178delT* 60 p.Tyr60ThrfsX 4 1
c.180C > G [17] 60 p.Tyr60X 1
2 c.291-1G > C [18]   Splice site mutation 1
4 c.474delT* 158 p.Cys158CysfsX3 1
c.481A > T* 161 p.Ile161Phe 1
c.488G > A [19] 163 p.Gly163Asp 1
c.493G > T [19] 165 p.Glu165X 1
580G > A [20] 194 p.Asp194Asn 3
5 c.733C > T* 245 p.Leu245Phe 1
6 c.735-10C > A [19]   Possible splice site mutation 1
c.790_793delTTTG [21] 264 p.Phe264ArgfsX22 1
7 c.876C > G [22] 292 p.Tyr292X 2
c.867_882delGCTTGAGTACGAACCG* 289 p.Met289MetfsX42 1
c.910delC [19] 304 p.Arg304GlyfsX32 2
8 c.921-4_921-2delGCA*   Splice site mutation 1
  c.1010_1011delTG [23] 337 p.Val337GlyfsX22 1
  1. *novel mutation.