Table 1.
Codon | Position | Mutation | Change | Coding | Rate | Origin | Tissue type | First author (year) |
89 | N-terminus | Silent | G/A | Val | – | Skmel-110 | Melanoma | Campos (2002) |
95 | N-terminus | Missense | CCC/TCC | Pro/Ser | 1/422 | Patient | Breast and ovarian ca | Toyama (1999) |
101 | N-terminus | Silent | C/T | Asp | – | Skmel-110 | Melanoma | Campos (2002) |
166 | C-terminus | Silent | G/A | Arg | 1/442 | Patient | Breast and ovarian ca | Toyama (1999) |
172 | C-terminus | Missense | GAG/AAG | Glu/Lys | – | HCT116 | Colon carcinoma | Oki (1999), Ito (2002) |
173 | C-terminus | Silent | G/A | Ser | 3/23 | Patient | Head and neck SCC | Gunduz (2000) |
188 | NLS/NTS | Silent | G/A | Ser | 18/442 | Patient | Breast and ovarian ca | Toyama (1999) |
188 | NLS/NTS | Silent | G/A | Ser | – | MKN28 | Gastric carcinoma | Oki (1999) |
188 | NLS/NTS | Silent | G/A | Ser | – | MKN45 | Gastric carcinoma | Oki (1999) |
188 | NLS/NTS | Silent | G/A | Ser | 14/71 | Patient | Oral SCC | Krishnamurthy (2001) |
192 | C-terminus | Missense | GCC/GAC | Ala/Asp | 1/23 | Patient | Head and neck SCC | Gunduz (2000) |
214 | PHD | Missense | GCG/GAG | Ala/Glu | 1/31 | Patient | ESCC | Chen (2001) |
215 | PHD | Missense | TGC/TCC | Cys/Ser | 1/23 | Patient | Head and neck SCC | Gunduz (2000) |
216 | PHD | Missense | AAC/AGC | Asx/Ser | 1/23 | Patient | Head and neck SCC | Gunduz (2000) |
219 | PHD | Silent | C/T | Pro | 1/31 | Patient | Oesophageal SCC | Chen (2001) |
223 | PHD | Silent | C/T | Asn | 1/31 | Patient | Oesophageal SCC | Chen (2001) |
228 | PHD | Silent | T/C | Cys | 1/442 | Patient | Breast and ovarian ca | Toyama (1999) |
233 | PHD | Missense | GTC/ATC | Val/Leu | 1/31 | Patient | Oesophageal SCC | Chen (2001) |
236 | PHD | Missense | GGG/GTG | Gly/Val | 1/31 | Patient | Oesophageal SCC | Chen (2001) |
239 | PHD | Silent | G/C | Ser | – | Skmel-24 | Melanoma | Campos (2002) |
244 | PHD | Silent | T/C | Asn | – | Skmel-24 | Melanoma | Campos (2002) |
247 | PHD | Silent | C/A | Pro | – | Skmel-24 | Melanoma | Campos (2002) |
253 | PHD | Silent | T/C | Cys | – | Skmel-24 | Melanoma | Campos (2002) |
257 | PHD | Silent | G/T | Arg | – | Skmel-24 | Melanoma | Campos (2002) |
260 | PHD | Missense | AAC/AGC | Asn/Ser | – | Skmel-24 | Melanoma | Campos (2002) |
270 | PHD | Silent | A/G | Lys | – | Skmel-24 | Melanoma | Campos (2002) |
270 | PHD | Missense | AAG/AAT | Lys/Asn | 1/31 | Patient | Oesophageal SCC | Chen (2001) |
272 | PHD | Silent | A/G | Lys | – | Skmel-24 | Melanoma | Campos (2002) |
ca, carcinoma; NLS, nuclear localisation signal; NTS, nucleolar targeting sequence; PHD, plant homeodomain; SCC, squamous cell carcinoma.