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

Summary

Isoform:
Position:
293
Ref:
G
Mutation:
W
PTM impact:
proximal
PTM affected:
3
Kinases:
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: 290R

Affected site:

Position: 290
Residue: R
Type: methylation

Impact:

distal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
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
Showing 1 to 5 of 31 rows

PTM Site: 291K

Affected site:

Position: 291
Residue: K
Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
291N TEEENLR[K/N]KKGEPHHE 0
direct
291E TEEENLR[K/E]KKGEPHHE 0
direct
292I TEEENLRK[K/I]KGEPHHE 1
proximal
292R TEEENLRK[K/R]KGEPHHE 1
proximal
290L TEEENL[R/L]RKKGEPHHE 1
proximal
Showing 1 to 5 of 29 rows

PTM Site: 292K

Affected site:

Position: 292
Residue: K
Type: acetylation, ubiquitination

Impact:

proximal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
292I EEENLRK[K/I]KGEPHHEL 0
direct
292R EEENLRK[K/R]KGEPHHEL 0
direct
293W EEENLRKK[G/W]GEPHHEL 1
proximal
293R EEENLRKK[G/R]GEPHHEL 1
proximal
291N EEENLR[K/N]KKGEPHHEL 1
proximal
Showing 1 to 5 of 27 rows

External references

dbSNP:

If you have any questions or feedback about this mutation:

Contact us