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

Summary

Isoform:
Position:
307
Ref:
A
Mutation:
V
PTM impact:
proximal
PTM affected:
5
Kinases:
LRRK2, EP300

Clinical Information

Cancer types: (TCGA MC3)

GBM

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 304T

Affected site:

Position: 304
Residue: T
Type: phosphorylation

Impact:

distal

PTM Site: 305K

Affected site:

Position: 305
Residue: K
Type: acetylation, ubiquitination

Impact:

proximal

PTM Site: 312T

PTM Site: 313S

Affected site:

Position: 313
Residue: S
Type: phosphorylation

Impact:

distal

PTM Site: 314S

External references

dbSNP:

If you have any questions or feedback about this mutation:

Contact us