Table 3.
Frequency of CDK4 mutations in squamous cell carcinoma of oral cavity, pharynx & larynx
| Region in gene | Mutations | Mutation type | Change in amino acid | Frequency of mutations |
|---|---|---|---|---|
| Exon 2 |
g5051G > C* |
Missense* |
Ser52Thr |
0.08 |
| Exon 2 |
g5095G > C |
Missense |
Glu67Gln |
0.13 |
| Intron 3 |
g5427delA |
- |
- |
0.14 |
| Exon 5 |
g5906C > A, g5907C > G |
Missense |
Pro194Ser |
0.19 |
| Exon 7 |
g7320 A > C, g7321_23delTGA |
Frame shift |
- |
0.15 |
| 3′ UTR |
g7121_7122insG |
Frame shift |
- |
0.16 |
| 3′ UTR | g7143delG | Frame shift | - | 0.09 |
* Reported mutation with CM994495 coding unknown *http://www.ensembl.org/Homo_sapiens/Variation/Summary?db=core;g=ENSG00000135446;r=12:58142034–58149796;v=CM994495;vdb=variation;vf=44643002.