From: Novel germline CDK4 mutations in patients with head and neck cancer
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 |