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Mutation:
TP53 E11Q
Summary
Isoform:
Position:
11
Ref:
E
Mutation:
Q
PTM impact:
proximal
PTM affected:
4
Kinases:
CSNK1A1,
CSNK1A1,
ATM,
PRKDC,
CSNK1D,
MAPK1,
ATM,
SMG1,
PRKDC,
NUAK1,
MAPK3,
DNA-PK,
CHEK1,
TP53RK,
CHEK2,
ATR,
BTK,
DYRK1A,
MAPK14,
CDK5,
STK11, CK1 group,
CSNK1A1,
TTK,
PRKDC,
CSNK2B,
CHEK1,
VRK1,
PRKAA1,
DAPK1,
CHEK2,
ATR,
CSNK2A1,
CSNK1D
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 6S
Affected site:
Position: 6
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 12L | --MEEPQSDPSVE[P/L]PP | 6 |
distal
|
| 12R | --MEEPQSDPSVE[P/R]PP | 6 |
distal
|
| 12H | --MEEPQSDPSVE[P/H]PP | 6 |
distal
|
| 11Q | --MEEPQSDPSV[E/Q]EPP | 5 |
distal
|
| 11K | --MEEPQSDPSV[E/K]EPP | 5 |
distal
|
| 10G | --MEEPQSDPS[V/G]VEPP | 4 |
distal
|
| 10F | --MEEPQSDPS[V/F]VEPP | 4 |
distal
|
| 10L | --MEEPQSDPS[V/L]VEPP | 4 |
distal
|
| 10I | --MEEPQSDPS[V/I]VEPP | 4 |
distal
|
| 9R | --MEEPQSDP[S/R]SVEPP | 3 |
distal
|
| 9N | --MEEPQSDP[S/N]SVEPP | 3 |
distal
|
| 8L | --MEEPQSD[P/L]PSVEPP | 2 |
proximal
|
| 8T | --MEEPQSD[P/T]PSVEPP | 2 |
proximal
|
| 7E | --MEEPQS[D/E]DPSVEPP | 1 |
proximal
|
| 7H | --MEEPQS[D/H]DPSVEPP | 1 |
proximal
|
| 5R | --MEEP[Q/R]QSDPSVEPP | 1 |
proximal
|
| 4L | --MEE[P/L]PQSDPSVEPP | 2 |
proximal
|
| 4R | --MEE[P/R]PQSDPSVEPP | 2 |
network-rewiring
|
| 3G | --ME[E/G]EPQSDPSVEPP | 3 |
distal
|
| 3Q | --ME[E/Q]EPQSDPSVEPP | 3 |
distal
|
| 3K | --ME[E/K]EPQSDPSVEPP | 3 |
distal
|
| 2G | --M[E/G]EEPQSDPSVEPP | 4 |
distal
|
| 2K | --M[E/K]EEPQSDPSVEPP | 4 |
distal
|
| 1V | --[M/V]MEEPQSDPSVEPP | 5 |
distal
|
PTM Site: 9S
Affected site:
Position: 9
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 14V | EEPQSDPSVEPP[L/V]LSQ | 5 |
distal
|
| 13L | EEPQSDPSVEP[P/L]PLSQ | 4 |
distal
|
| 13R | EEPQSDPSVEP[P/R]PLSQ | 4 |
distal
|
| 13S | EEPQSDPSVEP[P/S]PLSQ | 4 |
distal
|
| 12L | EEPQSDPSVE[P/L]PPLSQ | 3 |
distal
|
| 12R | EEPQSDPSVE[P/R]PPLSQ | 3 |
distal
|
| 12H | EEPQSDPSVE[P/H]PPLSQ | 3 |
distal
|
| 11Q | EEPQSDPSV[E/Q]EPPLSQ | 2 |
proximal
|
| 11K | EEPQSDPSV[E/K]EPPLSQ | 2 |
network-rewiring
|
| 10G | EEPQSDPS[V/G]VEPPLSQ | 1 |
proximal
|
| 10F | EEPQSDPS[V/F]VEPPLSQ | 1 |
proximal
|
| 10L | EEPQSDPS[V/L]VEPPLSQ | 1 |
network-rewiring
|
| 10I | EEPQSDPS[V/I]VEPPLSQ | 1 |
proximal
|
| 9R | EEPQSDP[S/R]SVEPPLSQ | 0 |
direct
|
| 9N | EEPQSDP[S/N]SVEPPLSQ | 0 |
direct
|
| 8L | EEPQSD[P/L]PSVEPPLSQ | 1 |
proximal
|
| 8T | EEPQSD[P/T]PSVEPPLSQ | 1 |
proximal
|
| 7E | EEPQS[D/E]DPSVEPPLSQ | 2 |
proximal
|
| 7H | EEPQS[D/H]DPSVEPPLSQ | 2 |
proximal
|
| 5R | EEP[Q/R]QSDPSVEPPLSQ | 4 |
distal
|
| 4L | EE[P/L]PQSDPSVEPPLSQ | 5 |
distal
|
| 4R | EE[P/R]PQSDPSVEPPLSQ | 5 |
network-rewiring
|
| 3G | E[E/G]EPQSDPSVEPPLSQ | 6 |
distal
|
| 3Q | E[E/Q]EPQSDPSVEPPLSQ | 6 |
distal
|
| 3K | E[E/K]EPQSDPSVEPPLSQ | 6 |
distal
|
PTM Site: 15S
Affected site:
Position: 15
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 20L | PSVEPPLSQETF[S/L]SDL | 5 |
distal
|
| 20P | PSVEPPLSQETF[S/P]SDL | 5 |
distal
|
| 16H | PSVEPPLS[Q/H]QETFSDL | 1 |
network-rewiring
|
| 16R | PSVEPPLS[Q/R]QETFSDL | 1 |
network-rewiring
|
| 14V | PSVEPP[L/V]LSQETFSDL | 1 |
proximal
|
| 13L | PSVEP[P/L]PLSQETFSDL | 2 |
proximal
|
| 13R | PSVEP[P/R]PLSQETFSDL | 2 |
network-rewiring
|
| 13S | PSVEP[P/S]PLSQETFSDL | 2 |
proximal
|
| 12L | PSVE[P/L]PPLSQETFSDL | 3 |
distal
|
| 12R | PSVE[P/R]PPLSQETFSDL | 3 |
network-rewiring
|
| 12H | PSVE[P/H]PPLSQETFSDL | 3 |
distal
|
| 11Q | PSV[E/Q]EPPLSQETFSDL | 4 |
distal
|
| 11K | PSV[E/K]EPPLSQETFSDL | 4 |
distal
|
| 10G | PS[V/G]VEPPLSQETFSDL | 5 |
distal
|
| 10F | PS[V/F]VEPPLSQETFSDL | 5 |
distal
|
| 10L | PS[V/L]VEPPLSQETFSDL | 5 |
distal
|
| 10I | PS[V/I]VEPPLSQETFSDL | 5 |
distal
|
| 9R | P[S/R]SVEPPLSQETFSDL | 6 |
distal
|
| 9N | P[S/N]SVEPPLSQETFSDL | 6 |
distal
|
PTM Site: 18T
Affected site:
Position: 18
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 20L | EPPLSQETF[S/L]SDLWKL | 2 |
proximal
|
| 20P | EPPLSQETF[S/P]SDLWKL | 2 |
proximal
|
| 16H | EPPLS[Q/H]QETFSDLWKL | 2 |
proximal
|
| 16R | EPPLS[Q/R]QETFSDLWKL | 2 |
network-rewiring
|
| 14V | EPP[L/V]LSQETFSDLWKL | 4 |
distal
|
| 13L | EP[P/L]PLSQETFSDLWKL | 5 |
distal
|
| 13R | EP[P/R]PLSQETFSDLWKL | 5 |
network-rewiring
|
| 13S | EP[P/S]PLSQETFSDLWKL | 5 |
distal
|
| 12L | E[P/L]PPLSQETFSDLWKL | 6 |
distal
|
| 12R | E[P/R]PPLSQETFSDLWKL | 6 |
distal
|
| 12H | E[P/H]PPLSQETFSDLWKL | 6 |
distal
|
External references
dbSNP:
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