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Mutation:
TP53 R290C
Summary
Isoform:
Position:
290
Ref:
R
Mutation:
C
PTM impact:
direct
PTM affected:
4
Kinases:
AURKB,
EP300
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 284T
Affected site:
Position: 284
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
PTM Site: 290R
Affected site:
Position: 290
Residue: R
Type: methylation
Impact:
directOther known mutations affecting this site
PTM Site: 291K
Affected site:
Position: 291
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
PTM Site: 292K
Affected site:
Position: 292
Residue: K
Type: ubiquitination, acetylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 298G | EEENLRKKGEPHH[E/G]EL | 6 |
distal
|
| 298K | EEENLRKKGEPHH[E/K]EL | 6 |
distal
|
| 297Q | EEENLRKKGEPH[H/Q]HEL | 5 |
distal
|
| 297R | EEENLRKKGEPH[H/R]HEL | 5 |
distal
|
| 296Y | EEENLRKKGEP[H/Y]HHEL | 4 |
distal
|
| 295L | EEENLRKKGE[P/L]PHHEL | 3 |
distal
|
| 295S | EEENLRKKGE[P/S]PHHEL | 3 |
distal
|
| 293W | EEENLRKK[G/W]GEPHHEL | 1 |
proximal
|
| 293R | EEENLRKK[G/R]GEPHHEL | 1 |
proximal
|
| 292I | EEENLRK[K/I]KGEPHHEL | 0 |
direct
|
| 292R | EEENLRK[K/R]KGEPHHEL | 0 |
direct
|
| 291N | EEENLR[K/N]KKGEPHHEL | 1 |
proximal
|
| 291E | EEENLR[K/E]KKGEPHHEL | 1 |
proximal
|
| 290L | EEENL[R/L]RKKGEPHHEL | 2 |
proximal
|
| 290P | EEENL[R/P]RKKGEPHHEL | 2 |
proximal
|
| 290H | EEENL[R/H]RKKGEPHHEL | 2 |
proximal
|
| 290C | EEENL[R/C]RKKGEPHHEL | 2 |
proximal
|
| 290G | EEENL[R/G]RKKGEPHHEL | 2 |
proximal
|
| 289F | EEEN[L/F]LRKKGEPHHEL | 3 |
distal
|
| 287D | EE[E/D]ENLRKKGEPHHEL | 5 |
distal
|
| 287K | EE[E/K]ENLRKKGEPHHEL | 5 |
distal
|
| 286V | E[E/V]EENLRKKGEPHHEL | 6 |
distal
|
| 286G | E[E/G]EENLRKKGEPHHEL | 6 |
distal
|
| 286A | E[E/A]EENLRKKGEPHHEL | 6 |
distal
|
| 286Q | E[E/Q]EENLRKKGEPHHEL | 6 |
distal
|
| 286K | E[E/K]EENLRKKGEPHHEL | 6 |
distal
|
| 287Q | EE[E/Q]ENLRKKGEPHHEL | 5 |
distal
|
External references
dbSNP:
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