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Mutation:
TP53 P4L
Summary
Isoform:
Position:
4
Ref:
P
Mutation:
L
PTM impact:
proximal
PTM affected:
2
Kinases:
CSNK1A1,
ATM,
CSNK1A1,
PRKDC,
CSNK1D
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 6S
Affected site:
Position: 6
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 7E | --MEEPQS[D/E]DPSVEPP | 1 |
proximal
|
| 7H | --MEEPQS[D/H]DPSVEPP | 1 |
proximal
|
| 5R | --MEEP[Q/R]QSDPSVEPP | 1 |
proximal
|
| 8L | --MEEPQSD[P/L]PSVEPP | 2 |
proximal
|
| 8T | --MEEPQSD[P/T]PSVEPP | 2 |
proximal
|
PTM Site: 9S
Affected site:
Position: 9
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 9R | EEPQSDP[S/R]SVEPPLSQ | 0 |
direct
|
| 9N | EEPQSDP[S/N]SVEPPLSQ | 0 |
direct
|
| 10G | EEPQSDPS[V/G]VEPPLSQ | 1 |
proximal
|
| 10F | EEPQSDPS[V/F]VEPPLSQ | 1 |
proximal
|
| 10L | EEPQSDPS[V/L]VEPPLSQ | 1 |
network-rewiring
|
External references
dbSNP:
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