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Summary

Isoform:
Position:
298
Ref:
E
Mutation:
K
PTM impact:
distal
PTM affected:
4
Kinases:
EP300, LRRK2, 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)

[0.0199681]

PTM Site: 291K

Affected site:

Position: 291
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

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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:

distal

Other known mutations affecting this site

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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

PTM Site: 304T

Affected site:

Position: 304
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

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Mutation
In sequence
Distance
Impact
304A HELPPGS[T/A]TKRALPNN 0
direct
303N HELPPG[S/N]STKRALPNN 1
proximal
303G HELPPG[S/G]STKRALPNN 1
proximal
306Q HELPPGSTK[R/Q]RALPNN 2
network-rewiring
302E HELPP[G/E]GSTKRALPNN 2
network-rewiring
Showing 1 to 5 of 14 rows

PTM Site: 305K

Affected site:

Position: 305
Residue: K
Type: acetylation, ubiquitination

Impact:

distal

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
306Q ELPPGSTK[R/Q]RALPNNT 1
proximal
304A ELPPGS[T/A]TKRALPNNT 1
proximal
307V ELPPGSTKR[A/V]ALPNNT 2
proximal
307G ELPPGSTKR[A/G]ALPNNT 2
proximal
303N ELPPG[S/N]STKRALPNNT 2
proximal
Showing 1 to 5 of 15 rows

External references

dbSNP:

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