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.