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. 2014 Jan 15;22(9):1085–1092. doi: 10.1038/ejhg.2013.292

Table 2. Nonsense mutations described in HDGC, LBC families and EODGC cases that could be targeted by suppressor-tRNAs (full data in Supplementary Material).

Gene domain Protein domain CDH1 mutation Normal codon Original amino acid Generated PTC
HDGC
 Exon 2 Signal c.59G>A TGG Trp TAG
 Exon 2 Signal c.70G>T GAG Glu TAG
 Exon 3 Precursor c.187C>T CGA Arg TGA
 Exon 3 Precursor c.190C>T CAA Gln TAA
 Exon 3 Precursor c.283C>T CAG Gln TAG
 Exon 4 Precursor c.489C>A TGC Cys TGA
 Exon 5 Extracellular c.586G>T GGA Gly TGA
 Exon 7 Extracellular c.1003C>T CGA Arg TGA
 Exon 8 Extracellular c.1023T>G TAT Tyr TAG
 Exon 10 Extracellular c.1507C>T CAG Gln TAG
 Exon 12 Extracellular c.1792C>T CGA Arg TGA
 Exon 12 Extracellular c.1913G>A TGG Trp TAG
 Exon 13 Extracellular c.2095C>T CAG Gln TAG
 Exon 14 Cytoplasmic c.2275G>T GGA Gly TGA
 Exon 14 Cytoplasmic c.2287G>T GAG Glu TAG
           
EODGC
 Exon 12 Extracellular c.1792C>T CGA Arg TGA
           
LBC
 Exon 3 Precursor c.283C>T CAG Gln TAG

Abbreviations: Arg, arginine; Cys, cysteine; Gln, glutamine; Glu, glutamic acid; Gly, glycine; TAA, ochre; TAG, amber; TGA, opal; Trp, tryptophan; Tyr, tyrosine.