Summary

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

Clinical Information

Cancer types: (TCGA MC3)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Tumor predisposition syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0199681]

PTM Site: 304T

Affected site:

Position: 304
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
298K H[E/K]ELPPGSTKRALPNN 6
distal
310K HELPPGSTKRALP[N/K]NN 6
distal
304A HELPPGS[T/A]TKRALPNN 0
direct
303N HELPPG[S/N]STKRALPNN 1
proximal
303G HELPPG[S/G]STKRALPNN 1
proximal
302R HELPP[G/R]GSTKRALPNN 2
network-rewiring
307V HELPPGSTKR[A/V]ALPNN 3
distal

PTM Site: 292K

Affected site:

Position: 292
Residue: K
Type: acetylation,ubiquitination

Impact:

distal

PTM Site: 291K

PTM Site: 305K

Affected site:

Position: 305
Residue: K
Type: acetylation,ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
311S ELPPGSTKRALPN[N/S]NT 6
distal
311T ELPPGSTKRALPN[N/T]NT 6
distal
310K ELPPGSTKRALP[N/K]NNT 5
distal
304A ELPPGS[T/A]TKRALPNNT 1
proximal
303N ELPPG[S/N]STKRALPNNT 2
proximal
303G ELPPG[S/G]STKRALPNNT 2
proximal
302R ELPP[G/R]GSTKRALPNNT 3
distal
307V ELPPGSTKR[A/V]ALPNNT 2
proximal

External references

dbSNP:

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