Table 3.
Newly identified TP53 mutations
| Population | cDNA description | Protein description | Mutation function | Location |
|---|---|---|---|---|
| Hungary | c.97-39G > A | intron | substitution | Intron 3 |
| c.99_100insGTCC | p.(Pro34Valfs*10) | ins | Exon 4 | |
| Poland | c.484_488delinsC | p.(Ile162Profs*7) | delins | Exon 5 |
| c.672 + 83 T > C | intron | substitution | Intron 6 | |
| Romania | c.412_422del | p.(Ala138Profs*7) | del | Exon 5 |
| c.450_478del | p.(Pro151Glyfs*20) | del | Exon 5 | |
| c.622_623insGATA | p.(Asp208Glyfs*2) | ins | Exon 6 | |
| c.672 + 3C > T | p.? | substitution | Intron 6 | |
| c.782 + 23G > A | p.? | substitution | Intron 7 | |
| c.*1C > T | p.(=) | substitution | 3′-UTR (Exon 11) | |
| China | c.323_339del | p.(Gly108Valfs*35) | del | Exon 4 |
| c.98_99insAGTC | p.(Pro34Valfs*10) | ins | Exon 4 | |
| c.255_265del | p.(Ala86Leufs*59) | del | Exon 4 | |
| c.369_375del | p.(Cys124Thrfs*44) | del | Exon 4 | |
| c.195_235del | p.(Arg65Serfs*70) | del | Exon 4 | |
| c.646_647insTAG | p.(Val218dup) | ins | Exon 6 | |
| c.729_732del | p.(Gly244Alafs*2) | del | Exon 7 | |
| c.820_825dup | p.(Val274_Cys275dup) | dup | Exon 8 | |
| Japan | c.99_112del | p.(Pro34Serfs*4) | del | Exon 4 |
| c.503_541del | p.(His168_Glu180del) | del | Exon 5 | |
| c.514_532del | p.(Val172Thrfs*69) | del | Exon 5 | |
| c.449_459del | p.(Thr150Argfs*27) | del | Exon 5 | |
| c.473_474delinsCT | p.(Arg158Pro) | delins | Exon 5 | |
| c.576_599del | p.(Gln192_Asn200delinsHis) | del | Exon 6 | |
| c.588_589del | p.(Val197Glyfs*11) | del | Exon 6 | |
| c.755_757delinsCT | p.(Leu252Profs*93) | delins | Exon 7 | |
| c.776_782 + 1dup | p.? | splice sitea | Intron 7 | |
| c.97-23_97-13del | p.? | splice siteb | Intron 3 |
aThe duplicated region is involved in splicing the consensus sequence in the 5′-region of the intron
bThe deleted region is involved in the predicted splicing consensus sequence for the branching site and the subsequent polypyrimidine tract in the intron