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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:

TP53 R283H

Summary

Isoform:
NM_000546
Position:
283
Ref:
R
Mutation:
H
PTM impact:
proximal
PTM affected:
2
Kinases:
AURKB

Clinical Information

Cancer types: (TCGA MC3)

HNSC

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Astrocytoma, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 284T

Affected site:

Position: 284
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
290L CPGRDRRTEEENL[R/L]RK 6
distal
290P CPGRDRRTEEENL[R/P]RK 6
distal
290H CPGRDRRTEEENL[R/H]RK 6
distal
290C CPGRDRRTEEENL[R/C]RK 6
distal
290G CPGRDRRTEEENL[R/G]RK 6
distal
289F CPGRDRRTEEEN[L/F]LRK 5
distal
287D CPGRDRRTEE[E/D]ENLRK 3
distal
287K CPGRDRRTEE[E/K]ENLRK 3
network-rewiring
286V CPGRDRRTE[E/V]EENLRK 2
proximal
286G CPGRDRRTE[E/G]EENLRK 2
proximal
286A CPGRDRRTE[E/A]EENLRK 2
proximal
286Q CPGRDRRTE[E/Q]EENLRK 2
proximal
286K CPGRDRRTE[E/K]EENLRK 2
network-rewiring
285V CPGRDRRT[E/V]EEENLRK 1
proximal
285G CPGRDRRT[E/G]EEENLRK 1
proximal
285Q CPGRDRRT[E/Q]EEENLRK 1
network-rewiring
285K CPGRDRRT[E/K]EEENLRK 1
proximal
284I CPGRDRR[T/I]TEEENLRK 0
direct
284S CPGRDRR[T/S]TEEENLRK 0
direct
284A CPGRDRR[T/A]TEEENLRK 0
direct
283P CPGRDR[R/P]RTEEENLRK 1
proximal
283H CPGRDR[R/H]RTEEENLRK 1
proximal
283C CPGRDR[R/C]RTEEENLRK 1
proximal
283G CPGRDR[R/G]RTEEENLRK 1
proximal
282L CPGRD[R/L]RRTEEENLRK 2
network-rewiring
282P CPGRD[R/P]RRTEEENLRK 2
network-rewiring
282Q CPGRD[R/Q]RRTEEENLRK 2
network-rewiring
282W CPGRD[R/W]RRTEEENLRK 2
network-rewiring
282G CPGRD[R/G]RRTEEENLRK 2
network-rewiring
281E CPGR[D/E]DRRTEEENLRK 3
distal
281V CPGR[D/V]DRRTEEENLRK 3
distal
281G CPGR[D/G]DRRTEEENLRK 3
distal
281A CPGR[D/A]DRRTEEENLRK 3
distal
281Y CPGR[D/Y]DRRTEEENLRK 3
distal
281H CPGR[D/H]DRRTEEENLRK 3
distal
281N CPGR[D/N]DRRTEEENLRK 3
distal
280S CPG[R/S]RDRRTEEENLRK 4
distal
280I CPG[R/I]RDRRTEEENLRK 4
distal
280T CPG[R/T]RDRRTEEENLRK 4
distal
280K CPG[R/K]RDRRTEEENLRK 4
distal
280G CPG[R/G]RDRRTEEENLRK 4
distal
279E CP[G/E]GRDRRTEEENLRK 5
distal
279R CP[G/R]GRDRRTEEENLRK 5
network-rewiring
278L C[P/L]PGRDRRTEEENLRK 6
distal
278R C[P/R]PGRDRRTEEENLRK 6
distal
278H C[P/H]PGRDRRTEEENLRK 6
distal
278S C[P/S]PGRDRRTEEENLRK 6
distal
278A C[P/A]PGRDRRTEEENLRK 6
distal
278T C[P/T]PGRDRRTEEENLRK 6
distal
284P CPGRDRR[T/P]TEEENLRK 0
direct
287Q CPGRDRRTEE[E/Q]ENLRK 3
network-rewiring

PTM Site: 290R

Affected site:

Position: 290
Residue: R
Type: methylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
296Y RTEEENLRKKGEP[H/Y]HH 6
distal
295L RTEEENLRKKGE[P/L]PHH 5
distal
295S RTEEENLRKKGE[P/S]PHH 5
distal
293W RTEEENLRKK[G/W]GEPHH 3
distal
293R RTEEENLRKK[G/R]GEPHH 3
distal
292I RTEEENLRK[K/I]KGEPHH 2
proximal
292R RTEEENLRK[K/R]KGEPHH 2
proximal
291N RTEEENLR[K/N]KKGEPHH 1
proximal
291E RTEEENLR[K/E]KKGEPHH 1
proximal
290L RTEEENL[R/L]RKKGEPHH 0
direct
290P RTEEENL[R/P]RKKGEPHH 0
direct
290H RTEEENL[R/H]RKKGEPHH 0
direct
290C RTEEENL[R/C]RKKGEPHH 0
direct
290G RTEEENL[R/G]RKKGEPHH 0
direct
289F RTEEEN[L/F]LRKKGEPHH 1
proximal
287D RTEE[E/D]ENLRKKGEPHH 3
distal
287K RTEE[E/K]ENLRKKGEPHH 3
distal
286V RTE[E/V]EENLRKKGEPHH 4
distal
286G RTE[E/G]EENLRKKGEPHH 4
distal
286A RTE[E/A]EENLRKKGEPHH 4
distal
286Q RTE[E/Q]EENLRKKGEPHH 4
distal
286K RTE[E/K]EENLRKKGEPHH 4
distal
285V RT[E/V]EEENLRKKGEPHH 5
distal
285G RT[E/G]EEENLRKKGEPHH 5
distal
285Q RT[E/Q]EEENLRKKGEPHH 5
distal
285K RT[E/K]EEENLRKKGEPHH 5
distal
284I R[T/I]TEEENLRKKGEPHH 6
distal
284S R[T/S]TEEENLRKKGEPHH 6
distal
284A R[T/A]TEEENLRKKGEPHH 6
distal
284P R[T/P]TEEENLRKKGEPHH 6
distal
287Q RTEE[E/Q]ENLRKKGEPHH 3
distal

External references

dbSNP:
rs371409680

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