TP53 P295L

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Mutation:

Summary

Isoform:

NM_000546

Position:

295

Ref:

Mutation:

PTM impact:

distal

PTM affected:

Kinases:

EP300

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: 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

PTM Site: 291K

Affected site:

Position: 291

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
297Q	TEEENLRKKGEPH[H/Q]HE	6	distal
297R	TEEENLRKKGEPH[H/R]HE	6	distal
296Y	TEEENLRKKGEP[H/Y]HHE	5	distal
295L	TEEENLRKKGE[P/L]PHHE	4	distal
295S	TEEENLRKKGE[P/S]PHHE	4	distal
293W	TEEENLRKK[G/W]GEPHHE	2	proximal
293R	TEEENLRKK[G/R]GEPHHE	2	proximal
292I	TEEENLRK[K/I]KGEPHHE	1	proximal
292R	TEEENLRK[K/R]KGEPHHE	1	proximal
291N	TEEENLR[K/N]KKGEPHHE	0	direct
291E	TEEENLR[K/E]KKGEPHHE	0	direct
290L	TEEENL[R/L]RKKGEPHHE	1	proximal
290P	TEEENL[R/P]RKKGEPHHE	1	proximal
290H	TEEENL[R/H]RKKGEPHHE	1	proximal
290C	TEEENL[R/C]RKKGEPHHE	1	proximal
290G	TEEENL[R/G]RKKGEPHHE	1	proximal
289F	TEEEN[L/F]LRKKGEPHHE	2	proximal
287D	TEE[E/D]ENLRKKGEPHHE	4	distal
287K	TEE[E/K]ENLRKKGEPHHE	4	distal
286V	TE[E/V]EENLRKKGEPHHE	5	distal
286G	TE[E/G]EENLRKKGEPHHE	5	distal
286A	TE[E/A]EENLRKKGEPHHE	5	distal
286Q	TE[E/Q]EENLRKKGEPHHE	5	distal
286K	TE[E/K]EENLRKKGEPHHE	5	distal
285V	T[E/V]EEENLRKKGEPHHE	6	distal
285G	T[E/G]EEENLRKKGEPHHE	6	distal
285Q	T[E/Q]EEENLRKKGEPHHE	6	distal
285K	T[E/K]EEENLRKKGEPHHE	6	distal
287Q	TEE[E/Q]ENLRKKGEPHHE	4	distal

PTM Site: 292K

Affected site:

Position: 292

Residue: K

Type: acetylation, ubiquitination

Impact:

distal

Other 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:

rs751713111

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