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Mutation:
TP53 E2K
Summary
Isoform:
Position:
2
Ref:
E
Mutation:
K
PTM impact:
distal
PTM affected:
2
Kinases:
CSNK1A1,
CSNK1A1,
ATM,
CSNK1D,
PRKDC
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:
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:
distalOther 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
|
External references
dbSNP:
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