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Mutation:
TP53 N311H
Summary
Isoform:
Position:
311
Ref:
N
Mutation:
H
PTM impact:
proximal
PTM affected:
6
Kinases:
LRRK2,
EP300,
CDK1,
AURORA A,
AURKA,
CDK2,
NEK2,
CDK9,
CDK5
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: 304T
Affected site:
Position: 304
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 310K | HELPPGSTKRALP[N/K]NN | 6 |
distal
|
| 310D | HELPPGSTKRALP[N/D]NN | 6 |
distal
|
| 309S | HELPPGSTKRAL[P/S]PNN | 5 |
distal
|
| 307V | HELPPGSTKR[A/V]ALPNN | 3 |
distal
|
| 307G | HELPPGSTKR[A/G]ALPNN | 3 |
distal
|
| 306Q | HELPPGSTK[R/Q]RALPNN | 2 |
network-rewiring
|
| 304A | HELPPGS[T/A]TKRALPNN | 0 |
direct
|
| 303N | HELPPG[S/N]STKRALPNN | 1 |
proximal
|
| 303G | HELPPG[S/G]STKRALPNN | 1 |
proximal
|
| 302E | HELPP[G/E]GSTKRALPNN | 2 |
network-rewiring
|
| 302R | HELPP[G/R]GSTKRALPNN | 2 |
network-rewiring
|
| 301L | HELP[P/L]PGSTKRALPNN | 3 |
distal
|
| 298G | H[E/G]ELPPGSTKRALPNN | 6 |
distal
|
| 298K | H[E/K]ELPPGSTKRALPNN | 6 |
distal
|
PTM Site: 305K
Affected site:
Position: 305
Residue: K
Type: ubiquitination, acetylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 311S | ELPPGSTKRALPN[N/S]NT | 6 |
distal
|
| 311T | ELPPGSTKRALPN[N/T]NT | 6 |
distal
|
| 311H | ELPPGSTKRALPN[N/H]NT | 6 |
distal
|
| 310K | ELPPGSTKRALP[N/K]NNT | 5 |
distal
|
| 310D | ELPPGSTKRALP[N/D]NNT | 5 |
distal
|
| 309S | ELPPGSTKRAL[P/S]PNNT | 4 |
distal
|
| 307V | ELPPGSTKR[A/V]ALPNNT | 2 |
proximal
|
| 307G | ELPPGSTKR[A/G]ALPNNT | 2 |
proximal
|
| 306Q | ELPPGSTK[R/Q]RALPNNT | 1 |
proximal
|
| 304A | ELPPGS[T/A]TKRALPNNT | 1 |
proximal
|
| 303N | ELPPG[S/N]STKRALPNNT | 2 |
proximal
|
| 303G | ELPPG[S/G]STKRALPNNT | 2 |
proximal
|
| 302E | ELPP[G/E]GSTKRALPNNT | 3 |
distal
|
| 302R | ELPP[G/R]GSTKRALPNNT | 3 |
distal
|
| 301L | ELP[P/L]PGSTKRALPNNT | 4 |
distal
|
PTM Site: 312T
Affected site:
Position: 312
Residue: T
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 318L | KRALPNNTSSSPQ[P/L]PK | 6 |
distal
|
| 317H | KRALPNNTSSSP[Q/H]QPK | 5 |
distal
|
| 317L | KRALPNNTSSSP[Q/L]QPK | 5 |
distal
|
| 317R | KRALPNNTSSSP[Q/R]QPK | 5 |
distal
|
| 317K | KRALPNNTSSSP[Q/K]QPK | 5 |
distal
|
| 316L | KRALPNNTSSS[P/L]PQPK | 4 |
distal
|
| 316S | KRALPNNTSSS[P/S]PQPK | 4 |
distal
|
| 316T | KRALPNNTSSS[P/T]PQPK | 4 |
distal
|
| 315C | KRALPNNTSS[S/C]SPQPK | 3 |
distal
|
| 315T | KRALPNNTSS[S/T]SPQPK | 3 |
distal
|
| 314F | KRALPNNTS[S/F]SSPQPK | 2 |
proximal
|
| 314C | KRALPNNTS[S/C]SSPQPK | 2 |
proximal
|
| 312S | KRALPNN[T/S]TSSSPQPK | 0 |
direct
|
| 311S | KRALPN[N/S]NTSSSPQPK | 1 |
proximal
|
| 311T | KRALPN[N/T]NTSSSPQPK | 1 |
proximal
|
| 311H | KRALPN[N/H]NTSSSPQPK | 1 |
proximal
|
| 310K | KRALP[N/K]NNTSSSPQPK | 2 |
proximal
|
| 310D | KRALP[N/D]NNTSSSPQPK | 2 |
proximal
|
| 309S | KRAL[P/S]PNNTSSSPQPK | 3 |
network-rewiring
|
| 307V | KR[A/V]ALPNNTSSSPQPK | 5 |
distal
|
| 307G | KR[A/G]ALPNNTSSSPQPK | 5 |
distal
|
| 306Q | K[R/Q]RALPNNTSSSPQPK | 6 |
distal
|
PTM Site: 313S
Affected site:
Position: 313
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 318L | RALPNNTSSSPQ[P/L]PKK | 5 |
distal
|
| 317H | RALPNNTSSSP[Q/H]QPKK | 4 |
distal
|
| 317L | RALPNNTSSSP[Q/L]QPKK | 4 |
distal
|
| 317R | RALPNNTSSSP[Q/R]QPKK | 4 |
distal
|
| 317K | RALPNNTSSSP[Q/K]QPKK | 4 |
distal
|
| 316L | RALPNNTSSS[P/L]PQPKK | 3 |
distal
|
| 316S | RALPNNTSSS[P/S]PQPKK | 3 |
distal
|
| 316T | RALPNNTSSS[P/T]PQPKK | 3 |
distal
|
| 315C | RALPNNTSS[S/C]SPQPKK | 2 |
proximal
|
| 315T | RALPNNTSS[S/T]SPQPKK | 2 |
proximal
|
| 314F | RALPNNTS[S/F]SSPQPKK | 1 |
network-rewiring
|
| 314C | RALPNNTS[S/C]SSPQPKK | 1 |
proximal
|
| 312S | RALPNN[T/S]TSSSPQPKK | 1 |
proximal
|
| 311S | RALPN[N/S]NTSSSPQPKK | 2 |
proximal
|
| 311T | RALPN[N/T]NTSSSPQPKK | 2 |
proximal
|
| 311H | RALPN[N/H]NTSSSPQPKK | 2 |
proximal
|
| 310K | RALP[N/K]NNTSSSPQPKK | 3 |
network-rewiring
|
| 310D | RALP[N/D]NNTSSSPQPKK | 3 |
distal
|
| 309S | RAL[P/S]PNNTSSSPQPKK | 4 |
distal
|
| 307V | R[A/V]ALPNNTSSSPQPKK | 6 |
distal
|
| 307G | R[A/G]ALPNNTSSSPQPKK | 6 |
distal
|
| 319N | RALPNNTSSSPQP[K/N]KK | 6 |
distal
|
PTM Site: 314S
Affected site:
Position: 314
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 318L | ALPNNTSSSPQ[P/L]PKKK | 4 |
distal
|
| 317H | ALPNNTSSSP[Q/H]QPKKK | 3 |
distal
|
| 317L | ALPNNTSSSP[Q/L]QPKKK | 3 |
distal
|
| 317R | ALPNNTSSSP[Q/R]QPKKK | 3 |
distal
|
| 317K | ALPNNTSSSP[Q/K]QPKKK | 3 |
distal
|
| 316L | ALPNNTSSS[P/L]PQPKKK | 2 |
proximal
|
| 316S | ALPNNTSSS[P/S]PQPKKK | 2 |
proximal
|
| 316T | ALPNNTSSS[P/T]PQPKKK | 2 |
proximal
|
| 315C | ALPNNTSS[S/C]SPQPKKK | 1 |
proximal
|
| 315T | ALPNNTSS[S/T]SPQPKKK | 1 |
proximal
|
| 314F | ALPNNTS[S/F]SSPQPKKK | 0 |
direct
|
| 314C | ALPNNTS[S/C]SSPQPKKK | 0 |
direct
|
| 312S | ALPNN[T/S]TSSSPQPKKK | 2 |
proximal
|
| 311S | ALPN[N/S]NTSSSPQPKKK | 3 |
distal
|
| 311T | ALPN[N/T]NTSSSPQPKKK | 3 |
distal
|
| 311H | ALPN[N/H]NTSSSPQPKKK | 3 |
distal
|
| 310K | ALP[N/K]NNTSSSPQPKKK | 4 |
distal
|
| 310D | ALP[N/D]NNTSSSPQPKKK | 4 |
distal
|
| 309S | AL[P/S]PNNTSSSPQPKKK | 5 |
distal
|
| 320E | ALPNNTSSSPQPK[K/E]KK | 6 |
distal
|
| 319N | ALPNNTSSSPQP[K/N]KKK | 5 |
distal
|
PTM Site: 315S
Affected site:
Position: 315
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 318L | LPNNTSSSPQ[P/L]PKKKP | 3 |
distal
|
| 317H | LPNNTSSSP[Q/H]QPKKKP | 2 |
proximal
|
| 317L | LPNNTSSSP[Q/L]QPKKKP | 2 |
proximal
|
| 317R | LPNNTSSSP[Q/R]QPKKKP | 2 |
network-rewiring
|
| 317K | LPNNTSSSP[Q/K]QPKKKP | 2 |
network-rewiring
|
| 316L | LPNNTSSS[P/L]PQPKKKP | 1 |
network-rewiring
|
| 316S | LPNNTSSS[P/S]PQPKKKP | 1 |
network-rewiring
|
| 316T | LPNNTSSS[P/T]PQPKKKP | 1 |
network-rewiring
|
| 315C | LPNNTSS[S/C]SPQPKKKP | 0 |
direct
|
| 315T | LPNNTSS[S/T]SPQPKKKP | 0 |
direct
|
| 314F | LPNNTS[S/F]SSPQPKKKP | 1 |
proximal
|
| 314C | LPNNTS[S/C]SSPQPKKKP | 1 |
proximal
|
| 312S | LPNN[T/S]TSSSPQPKKKP | 3 |
distal
|
| 311S | LPN[N/S]NTSSSPQPKKKP | 4 |
distal
|
| 311T | LPN[N/T]NTSSSPQPKKKP | 4 |
distal
|
| 311H | LPN[N/H]NTSSSPQPKKKP | 4 |
distal
|
| 310K | LP[N/K]NNTSSSPQPKKKP | 5 |
distal
|
| 310D | LP[N/D]NNTSSSPQPKKKP | 5 |
distal
|
| 309S | L[P/S]PNNTSSSPQPKKKP | 6 |
distal
|
| 320E | LPNNTSSSPQPK[K/E]KKP | 5 |
distal
|
| 319N | LPNNTSSSPQP[K/N]KKKP | 4 |
distal
|
External references
dbSNP:
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