ID | Exon | TP53 Mutation | Sequence change | Protein change | Basepair change | Localization | Hotspot mutation | Direct DNA contact/Zn | CpG Site | Conserved region | Siftclass | Mutation type | Transactivation class |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 5I | CYS-135-TYR | TGC > TAC | p.C135Y | C.404G > A | LSH | 2 | Deleterious | Missense | Non-Active | |||
2 | 5I | THR-140-ILE | ACC > ATC | p.T140I | C.419C > T | β | 2 | Deleterious | Missense | Partially Active | |||
3 | 5I | PRO-142-SER | CCT > TCT | p.P142S | C.424C > T | β | 2 | Deleterious | Missense | Partially Active | |||
4a | 5I | GLN-144-STOP | CAG > CTG | p.Q144 | C.430C > T | β | 99 | Deleterious | Nonsense | NA | |||
5a | 5I | ASP-148-ASN | GAT > AAT | p.D148N | C.442G > A | L2 | 3 | Neutral | Missense | Active | |||
6 | 5II | MET-169-ILE | ATG > ATA | p.M169I | C.507G > A | L2 | 3 | Partially Deleterious | Missense | Partially Active | |||
7 | 5II | MET-169-ILE | ATG > ATA | p.M169I | C.507G > A | L2 | 3 | Partially Deleterious | Missense | Partially Active | |||
8 | 5II | MET-169-ILE | ATG > ATA | p.M169I | C.507G > A | L2 | 3 | Partially Deleterious | Missense | Partially Active | |||
9 | 5II | GLU-171-LYS | GAG > AAG | p.E171K | C.511G > A | L2 | 3 | Deleterious | Missense | Active | |||
10a | 5II | VAL-173-MET | GTG > ATG | p.V173M | C.517G > A | L2 | 3 | Deleterious | Missense | Non-Active | |||
10b | 5II | ARG-181-HIS | CGC > CAC | p.R181H | c.542G > A | L2 | CpG | 3 | Deleterious | Missense | Partially Active | ||
11 | 5II | ARG-175-HIS | CGC > CAC | p.R175H | C.524G > A | L2 | Hotspot | Direct DNA Contact | CpG | 3 | Deleterious | Missense | Non-Active |
12 | 5II | ARG-175-HIS | CGC > CAC | p.R175H | C.524G > A | L2 | Hotspot | Direct DNA Contact | CpG | 3 | Deleterious | Missense | Non-Active |
5b | 5II | Frameshift | deletion | NA | C.528.del1 | L2 | Zn-binding Site | CpG | 3 | Frameshift | Deletion | NA (Zn-binding Site) | |
13 | 5II | HIS-179-ARG | CAT > CGT | p.H179R | C.536A > G | L2 | Hotspot | Zn-binding Site | 3 | Deleterious | Missense | Non-Active | |
14 | 5II | ASP-184-GLY | GAT > GGT | p.D184G | C.551A > G | L2 | 3 | Neutral | Missense | Active | |||
15 | 6 | ARG-202-CYS | CGT > TGT | p.R202C | C.604C > T | β | CpG | 99 | Deleterious | Missense | Active | ||
16a | 6 | ASP-208-GLY | GAC > GGC | p.D208G | C.623A > G | β | 99 | Deleterious | Missense | Active | |||
17 | 7 | TYR-236-CYS | TAC > TGC | p.Y236C | C.707A > G | β | 99 | Deleterious | Missense | Non-Active | |||
4b | 7 | MET-237-VAL | ATG > GTG | p.M237V | C.709A > G | L3 | 99 | Deleterious | Missense | Non-Active | |||
18 | 7 | ASN-239-SER | AAC > AGC | p.N239S | C.716A > G | L3 | Hotspot | Direct DNA Contact | 4 | Deleterious | Missense | Non-Active | |
19 | 7 | ARG-248-GLN | CGG > CAG | p.R248Q | C.743G > A | L3 | Hotspot | Direct DNA Contact | CpG | 4 | Deleterious | Missense | Non-Active |
20 | 7 | ARG-249-LYS | AGG > AAG | p.R249K | C.746G > A | L3 | Hotspot | Direct DNA Contact | 4 | Deleterious | Missense | Non-Active | |
16b | 7 | THR-256-ILE | ACA > ATA | p.T256I | C.767C > T | L3 | 4 | Deleterious | Missense | Partially Active | |||
21 | 8 | ARG-273-CYS | CGT > TGT | p.R273C | C.817C > T | LSH | Hotspot | Direct DNA Contact | CpG | 5 | Deleterious | Missense | Non-Active |
22 | 8 | GLY-279-GLU | GGG > GAG | p.G279E | C.836G > A | LSH | 5 | Deleterious | Missense | Non-Active | |||
23 | 8 | ARG-280-LYS | AGA > AAA | p.R280K | C.839G > A | LSH | Hotspot | Direct DNA Contact | 5 | Deleterious | Missense | Non-Active | |
24 | 8 | GLU-286-LYS | GAA > AAA | p.E286K | C.856G > A | LSH | 5 | Deleterious | Missense | Non-Active | |||
25a | 5I | THR-140-ILE | ACC > ATC | p.T140I | C.419C > T | β | 99 | Deleterious | Missense | Partially Active | |||
26a | 5I | PRO-151-SER | CCC > CCT | p.P151S | C.451C > T | β | Direct DNA Contact | 99 | Deleterious | Missense | Non-Active | ||
27 | 5I | ILE-162-MET | ATC > ATG | p.I162M | C.486C > G | β | 99 | Deleterious | Missense | Partially Active | |||
28a | 5II | VAL-172-ALA | GTG > GCG | p.V172A | C.515 T > C | L2 | 3 | Deleterious | Missense | Active | |||
29 | 5II | ARG-175-HIS | CGC > CAC | p.R175H | C.524G > A | L2 | Hotspot | Direct DNA Contact | CpG | 3 | Deleterious | Missense | Non-Active |
30 | 5II | GLY-187-ASP | GGT > GAT | p.G187D | C.560G > A | L2 | 3 | Neutral | Missense | Active | |||
26b | 5II | GLY-187-ASP | GGT > GAT | p.G187D | C.560G > A | L2 | 3 | Neutral | Missense | Active | |||
31 | 7 | MET-243-ILE | ATG > ATA | p.M243I | C.729G > A | L3 | Direct DNA Contact | 4 | Deleterious | Missense | Non-Active | ||
28b | 8 | VAL-272-MET | GTG > ATG | p.V272M | C.814G > A | LSH | 5 | Deleterious | Missense | Non-Active | |||
32 | 8 | ARG-290-CYS | CGC > TGC | p.R290C | C.868C > T | β | CpG | 99 | Deleterious | Missense | Active | ||
25b | 8 | GLY-302-ARG | GGG > AGG | p.G302R | C.904G > A | C-Term | 99 | Neutral | Missense | Active |