Mutational spectra of p53 in African American and Caucasian patients in relation to Pro/Pro phenotype
| Case No. . | p53codon . | Nucleotide change . | Amino acid change . | Structural element affected* . | Amino acid contact† . | Mutation type . | Exon-conserved area affected . | Tumors stage at diagnosis . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| African American patients (17 of 24; 71% of cases with p53 mutations) | ||||||||||||||||
| p47 | 270 | TTT>TGT | Phe>Cys | S10 β sheet | Buried | Disruptive | 8-Cons V | III C | ||||||||
| p106 | 152 | CCG>CTG | Pro>Leu | - | PE | Nondisruptive | 5-Outside Cons | III C | ||||||||
| p110 | 153 | CCC>CTC | Pro>Leu | - | PE | Nondisruptive | 5-Outside Cons | III C | ||||||||
| p132 | 196 | CGA>TGA | STOP | Truncated | - | Disruptive | 6-Cons III | IV D | ||||||||
| p138 | 176 | TGC>TAC | Cys>Tyr | L2 loop | Zn binding | Nondisruptive | 5-Cons III | II B | ||||||||
| p146 | 220 | TAT>CAT | Tyr>His | - | Buried | Nondisruptive | 6-Outside Cons | III C | ||||||||
| p168 | 282 | CGG>TGG | Arg>Trp | H2 helix | Buried | Disruptive | 8-Cons V | IV D | ||||||||
| p187 | 213 | CGA> TGA | STOP | Truncated | - | Disruptive | 6-Outside Cons | I A | ||||||||
| p198 | 196 | CGA>TGA | STOP | Truncated | - | Disruptive | 6-Outside Cons | III C | ||||||||
| p222 | 248 | CGG>CAG | Arg>Gln | L3 loop | DNA contact | Disruptive | 7-Cons IV | III C | ||||||||
| p251 | 258 | GAA>GAC | Glu>Asp | S9 β sheet | Buried | Nondisruptive | 7-Cons IV | III C | ||||||||
| p262 | 273 | CGT>CAT | Arg>His | S10 β sheet | DNA contact | Nondisruptive | 8-Cons V | II B | ||||||||
| p276 | 194 | CTT>CGT | Leu>Arg | L2 loop | Buried | Disruptive | 6-Outside Cons | III C | ||||||||
| p283 | 273 | CGT>TGT | Arg>Cys | S10 β sheet | DNA contact | Disruptive | 8-Cond V | IV D | ||||||||
| p285 | 175 | CGC>CAC | Arg>His | L2 loop | Buried | Nondisruptive | 5-Cons III | IV D | ||||||||
| p291 | 282 | CGG>TGG | Arg>Trp | H2 helix | Buried | Disruptive | 8-Cons V | II B | ||||||||
| p401 | 273 | CGT>CTT | Arg>Leu | S10 β sheet | DNA contact | Disruptive | 8-Cons V | III C | ||||||||
| Caucasian patients (6 of 17; 35% of cases with p53 mutations) | ||||||||||||||||
| P195 | 175 | CGC>CAC | Arg>His | L2 loop | Buried | Nondisruptive | 5-Cons III | II B | ||||||||
| P207 | 242 | TGC>TAC | Cys>Tyr | L3 loop | Zn binding | Nondisruptive | 7-Cons IV | II B | ||||||||
| P243 | 286 | GAA>AAA | Glu>Lys | H2 helix | PE | Disruptive | 8-Cons V | II B | ||||||||
| P252 | 282 | CGG>TGG | Arg>Trp | H2 helix | Buried | Disruptive | 8-Cons V | IVD | ||||||||
| P281 | 245 | GGC>AGC | Gly>Ser | L3 loop | Buried | Nondisruptive | 7-Cons IV | II B | ||||||||
| P302 | 236 | TAC>TGC | Tyr>Cys | S8 β sheet | Buried | Nondisruptive | 7-Cons IV | II B | ||||||||
| Case No. . | p53codon . | Nucleotide change . | Amino acid change . | Structural element affected* . | Amino acid contact† . | Mutation type . | Exon-conserved area affected . | Tumors stage at diagnosis . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| African American patients (17 of 24; 71% of cases with p53 mutations) | ||||||||||||||||
| p47 | 270 | TTT>TGT | Phe>Cys | S10 β sheet | Buried | Disruptive | 8-Cons V | III C | ||||||||
| p106 | 152 | CCG>CTG | Pro>Leu | - | PE | Nondisruptive | 5-Outside Cons | III C | ||||||||
| p110 | 153 | CCC>CTC | Pro>Leu | - | PE | Nondisruptive | 5-Outside Cons | III C | ||||||||
| p132 | 196 | CGA>TGA | STOP | Truncated | - | Disruptive | 6-Cons III | IV D | ||||||||
| p138 | 176 | TGC>TAC | Cys>Tyr | L2 loop | Zn binding | Nondisruptive | 5-Cons III | II B | ||||||||
| p146 | 220 | TAT>CAT | Tyr>His | - | Buried | Nondisruptive | 6-Outside Cons | III C | ||||||||
| p168 | 282 | CGG>TGG | Arg>Trp | H2 helix | Buried | Disruptive | 8-Cons V | IV D | ||||||||
| p187 | 213 | CGA> TGA | STOP | Truncated | - | Disruptive | 6-Outside Cons | I A | ||||||||
| p198 | 196 | CGA>TGA | STOP | Truncated | - | Disruptive | 6-Outside Cons | III C | ||||||||
| p222 | 248 | CGG>CAG | Arg>Gln | L3 loop | DNA contact | Disruptive | 7-Cons IV | III C | ||||||||
| p251 | 258 | GAA>GAC | Glu>Asp | S9 β sheet | Buried | Nondisruptive | 7-Cons IV | III C | ||||||||
| p262 | 273 | CGT>CAT | Arg>His | S10 β sheet | DNA contact | Nondisruptive | 8-Cons V | II B | ||||||||
| p276 | 194 | CTT>CGT | Leu>Arg | L2 loop | Buried | Disruptive | 6-Outside Cons | III C | ||||||||
| p283 | 273 | CGT>TGT | Arg>Cys | S10 β sheet | DNA contact | Disruptive | 8-Cond V | IV D | ||||||||
| p285 | 175 | CGC>CAC | Arg>His | L2 loop | Buried | Nondisruptive | 5-Cons III | IV D | ||||||||
| p291 | 282 | CGG>TGG | Arg>Trp | H2 helix | Buried | Disruptive | 8-Cons V | II B | ||||||||
| p401 | 273 | CGT>CTT | Arg>Leu | S10 β sheet | DNA contact | Disruptive | 8-Cons V | III C | ||||||||
| Caucasian patients (6 of 17; 35% of cases with p53 mutations) | ||||||||||||||||
| P195 | 175 | CGC>CAC | Arg>His | L2 loop | Buried | Nondisruptive | 5-Cons III | II B | ||||||||
| P207 | 242 | TGC>TAC | Cys>Tyr | L3 loop | Zn binding | Nondisruptive | 7-Cons IV | II B | ||||||||
| P243 | 286 | GAA>AAA | Glu>Lys | H2 helix | PE | Disruptive | 8-Cons V | II B | ||||||||
| P252 | 282 | CGG>TGG | Arg>Trp | H2 helix | Buried | Disruptive | 8-Cons V | IVD | ||||||||
| P281 | 245 | GGC>AGC | Gly>Ser | L3 loop | Buried | Nondisruptive | 7-Cons IV | II B | ||||||||
| P302 | 236 | TAC>TGC | Tyr>Cys | S8 β sheet | Buried | Nondisruptive | 7-Cons IV | II B | ||||||||
Abbreviations: Cons, evolutionarily conserved area; Outside cons, outside evolutionarily conserved area. Buried, <15% of DNA binding site surface area exposed. PE, partially exposed (>15 or <50% of DNA binding site surface area exposed); Disruptive, mutation that introduces an amino acid that disrupts the biding site; Nondisruptive, mutation that introduces an amino acid that does not disrupt the binding site.
Structural element feature as described in Cho et al. (1994).
Contact features of amino acids with DNA.