Overview of TP53 mutations in the first cohort
UPN . | Del17p . | Mutation (aa) . | Type of mutation . | Clone size, % . | Predicted activity p21, %* . | Predicted activity Bax, %* . | P21 induction FACS, % . | P21 induction MLPA, -fold . | Bax induction MLPA, -fold . |
---|---|---|---|---|---|---|---|---|---|
1 | yes | splice site | splice site | 80 | N/A | N/A | 100.88 | 1.38 | 1.16 |
7 | no | p.W146_D148delinsC | frameshift | 5 | 0 | 0 | 100.96 | N/A | N/A |
11 | yes | p.F134C | missense | 75 | 15.6 | 10.2 | 114.52 | N/A | N/A |
12 | no | p.R209KfsX6 | frameshift | 75 | 0 | 0 | 109.47 | N/A | N/A |
14 | no | p.R283C | missense | 50 | 41.7 | 51.9 | 161.92 | 10.35 normal | 3.18 normal |
16 | no | p.R248Q | missense | 10 | 0 | 0 | 151.22 | N/A | N/A |
19 | yes | p.E180_R181delinsD | in frame deletion | 90 | N/A | N/A | 107.55 | 2.61 | 1.19 |
25 | yes | p.C238F | missense | 40 | 1.3 | 4.6 | 112.46 | N/A | N/A |
28 | no | p.P152L | missense | 20 | 15.7 | 16.4 | 170.04 | 5.09 normal | 2.17 normal |
31 | yes | p.Q167X | nonsense | 25 | 92.33 | 1.91 | 1.18 | ||
p.C277F | missense | 60 | 0.5 | 0 | |||||
33 | yes | p.D281G | missense | 90 | 19.9 | 13.5 | 110.37 | N/A | N/A |
35 | no | p.D48VfsX1fs | frameshift | 20 | 110.03 | 1.80 | 1.41 | ||
splice site | splice site | 20 | |||||||
p.Y234H | missense | 10 | 0 | 2.3 | |||||
p.I254N | missense | 5 | 10.2 | 16.8 | |||||
p.E349X | nonsense | 10 | |||||||
40 | yes | p.P87fsX36 | frameshift | 70 | 0 | 0 | 105.55 | N/A | N/A |
41 | yes | p.G245D | missense | 90 | 3.2 | 11.9 | 109.91 | N/A | N/A |
43 | no | p.I162F | missense | 95 | 10.8 | 13.4 | 104.61 | 1.29 | 1.21 |
46 | yes | p.R110L | missense | 60 | 20.2 | 8.9 | 119.66 | N/A | N/A |
52 | yes | p.A138V | missense | 100 | 52.6 | 25.5 | 108.43 | N/A | N/A |
54 | yes | p.R248Q | missense | 60 | 0 | 0 | 126.33 | 1.84 | 1.56 |
55 | yes | p.R273H | missense | 85 | 1.7 | 2.4 | 135.83 | N/A | N/A |
58 | no | p.R209KfsX6 | frameshift | 80 | 0 | 0 | 100.07 | N/A | N/A |
UPN . | Del17p . | Mutation (aa) . | Type of mutation . | Clone size, % . | Predicted activity p21, %* . | Predicted activity Bax, %* . | P21 induction FACS, % . | P21 induction MLPA, -fold . | Bax induction MLPA, -fold . |
---|---|---|---|---|---|---|---|---|---|
1 | yes | splice site | splice site | 80 | N/A | N/A | 100.88 | 1.38 | 1.16 |
7 | no | p.W146_D148delinsC | frameshift | 5 | 0 | 0 | 100.96 | N/A | N/A |
11 | yes | p.F134C | missense | 75 | 15.6 | 10.2 | 114.52 | N/A | N/A |
12 | no | p.R209KfsX6 | frameshift | 75 | 0 | 0 | 109.47 | N/A | N/A |
14 | no | p.R283C | missense | 50 | 41.7 | 51.9 | 161.92 | 10.35 normal | 3.18 normal |
16 | no | p.R248Q | missense | 10 | 0 | 0 | 151.22 | N/A | N/A |
19 | yes | p.E180_R181delinsD | in frame deletion | 90 | N/A | N/A | 107.55 | 2.61 | 1.19 |
25 | yes | p.C238F | missense | 40 | 1.3 | 4.6 | 112.46 | N/A | N/A |
28 | no | p.P152L | missense | 20 | 15.7 | 16.4 | 170.04 | 5.09 normal | 2.17 normal |
31 | yes | p.Q167X | nonsense | 25 | 92.33 | 1.91 | 1.18 | ||
p.C277F | missense | 60 | 0.5 | 0 | |||||
33 | yes | p.D281G | missense | 90 | 19.9 | 13.5 | 110.37 | N/A | N/A |
35 | no | p.D48VfsX1fs | frameshift | 20 | 110.03 | 1.80 | 1.41 | ||
splice site | splice site | 20 | |||||||
p.Y234H | missense | 10 | 0 | 2.3 | |||||
p.I254N | missense | 5 | 10.2 | 16.8 | |||||
p.E349X | nonsense | 10 | |||||||
40 | yes | p.P87fsX36 | frameshift | 70 | 0 | 0 | 105.55 | N/A | N/A |
41 | yes | p.G245D | missense | 90 | 3.2 | 11.9 | 109.91 | N/A | N/A |
43 | no | p.I162F | missense | 95 | 10.8 | 13.4 | 104.61 | 1.29 | 1.21 |
46 | yes | p.R110L | missense | 60 | 20.2 | 8.9 | 119.66 | N/A | N/A |
52 | yes | p.A138V | missense | 100 | 52.6 | 25.5 | 108.43 | N/A | N/A |
54 | yes | p.R248Q | missense | 60 | 0 | 0 | 126.33 | 1.84 | 1.56 |
55 | yes | p.R273H | missense | 85 | 1.7 | 2.4 | 135.83 | N/A | N/A |
58 | no | p.R209KfsX6 | frameshift | 80 | 0 | 0 | 100.07 | N/A | N/A |
N/A indicates not applicable.
From IARC database.