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Mutation:
TP53 V31I
Summary
Isoform:
Position:
31
Ref:
V
Mutation:
I
PTM impact:
proximal
PTM affected:
3
Kinases:
GSK-3 group, CDK group,
CDK9,
ATM,
CDK5,
CDK7,
GSK3B,
MAPK14,
MAPK12,
PRKDC,
CHEK1,
ATM,
DNA-PK,
ATR,
CHEK2,
MAPKAPK5,
CSNK1A1,
PRKDC
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)
[0.17971199999999998]
PTM Site: 24K
Affected site:
Position: 24
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 29K | ETFSDLWKLLPE[N/K]NNV | 5 |
distal
|
| 29T | ETFSDLWKLLPE[N/T]NNV | 5 |
distal
|
| 29D | ETFSDLWKLLPE[N/D]NNV | 5 |
distal
|
| 28V | ETFSDLWKLLP[E/V]ENNV | 4 |
distal
|
| 27L | ETFSDLWKLL[P/L]PENNV | 3 |
distal
|
| 27R | ETFSDLWKLL[P/R]PENNV | 3 |
distal
|
| 27S | ETFSDLWKLL[P/S]PENNV | 3 |
distal
|
| 27T | ETFSDLWKLL[P/T]PENNV | 3 |
distal
|
| 26I | ETFSDLWKL[L/I]LPENNV | 2 |
proximal
|
| 20L | ETF[S/L]SDLWKLLPENNV | 4 |
distal
|
| 20P | ETF[S/P]SDLWKLLPENNV | 4 |
distal
|
| 30I | ETFSDLWKLLPEN[N/I]NV | 6 |
distal
|
PTM Site: 33S
Affected site:
Position: 33
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 39V | LPENNVLSPLPSQ[A/V]AM | 6 |
distal
|
| 38P | LPENNVLSPLPS[Q/P]QAM | 5 |
distal
|
| 37F | LPENNVLSPLP[S/F]SQAM | 4 |
distal
|
| 36L | LPENNVLSPL[P/L]PSQAM | 3 |
distal
|
| 36Q | LPENNVLSPL[P/Q]PSQAM | 3 |
distal
|
| 35M | LPENNVLSP[L/M]LPSQAM | 2 |
proximal
|
| 34L | LPENNVLS[P/L]PLPSQAM | 1 |
network-rewiring
|
| 34R | LPENNVLS[P/R]PLPSQAM | 1 |
network-rewiring
|
| 34S | LPENNVLS[P/S]PLPSQAM | 1 |
network-rewiring
|
| 34A | LPENNVLS[P/A]PLPSQAM | 1 |
network-rewiring
|
| 34T | LPENNVLS[P/T]PLPSQAM | 1 |
network-rewiring
|
| 33F | LPENNVL[S/F]SPLPSQAM | 0 |
direct
|
| 33Y | LPENNVL[S/Y]SPLPSQAM | 0 |
direct
|
| 31F | LPENN[V/F]VLSPLPSQAM | 2 |
proximal
|
| 31I | LPENN[V/I]VLSPLPSQAM | 2 |
proximal
|
| 29K | LPE[N/K]NNVLSPLPSQAM | 4 |
distal
|
| 29T | LPE[N/T]NNVLSPLPSQAM | 4 |
distal
|
| 29D | LPE[N/D]NNVLSPLPSQAM | 4 |
distal
|
| 28V | LP[E/V]ENNVLSPLPSQAM | 5 |
distal
|
| 27L | L[P/L]PENNVLSPLPSQAM | 6 |
distal
|
| 27R | L[P/R]PENNVLSPLPSQAM | 6 |
distal
|
| 27S | L[P/S]PENNVLSPLPSQAM | 6 |
distal
|
| 27T | L[P/T]PENNVLSPLPSQAM | 6 |
distal
|
| 30I | LPEN[N/I]NVLSPLPSQAM | 3 |
distal
|
PTM Site: 37S
Affected site:
Position: 37
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43F | NVLSPLPSQAMDD[L/F]LM | 6 |
distal
|
| 43M | NVLSPLPSQAMDD[L/M]LM | 6 |
distal
|
| 42G | NVLSPLPSQAMD[D/G]DLM | 5 |
distal
|
| 41G | NVLSPLPSQAM[D/G]DDLM | 4 |
distal
|
| 41N | NVLSPLPSQAM[D/N]DDLM | 4 |
distal
|
| 39V | NVLSPLPSQ[A/V]AMDDLM | 2 |
proximal
|
| 38P | NVLSPLPS[Q/P]QAMDDLM | 1 |
network-rewiring
|
| 37F | NVLSPLP[S/F]SQAMDDLM | 0 |
direct
|
| 36L | NVLSPL[P/L]PSQAMDDLM | 1 |
proximal
|
| 36Q | NVLSPL[P/Q]PSQAMDDLM | 1 |
proximal
|
| 35M | NVLSP[L/M]LPSQAMDDLM | 2 |
proximal
|
| 34L | NVLS[P/L]PLPSQAMDDLM | 3 |
network-rewiring
|
| 34R | NVLS[P/R]PLPSQAMDDLM | 3 |
network-rewiring
|
| 34S | NVLS[P/S]PLPSQAMDDLM | 3 |
distal
|
| 34A | NVLS[P/A]PLPSQAMDDLM | 3 |
distal
|
| 34T | NVLS[P/T]PLPSQAMDDLM | 3 |
distal
|
| 33F | NVL[S/F]SPLPSQAMDDLM | 4 |
distal
|
| 33Y | NVL[S/Y]SPLPSQAMDDLM | 4 |
distal
|
| 31F | N[V/F]VLSPLPSQAMDDLM | 6 |
distal
|
| 31I | N[V/I]VLSPLPSQAMDDLM | 6 |
distal
|
External references
dbSNP:
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