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Mutation:
TP53 A307V
Summary
Isoform:
Position:
307
Ref:
A
Mutation:
V
PTM impact:
proximal
PTM affected:
5
Kinases:
LRRK2,
EP300
Clinical Information
Cancer types: (TCGA MC3)
GBM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Li-Fraumeni 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: acetylation, ubiquitination
Impact:
proximalOther 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:
distalOther 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:
distalOther 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
|
External references
dbSNP:
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