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

Summary

Isoform:
Position:
2203
Ref:
R
Mutation:
C
PTM impact:
network-rewiring
PTM affected:
3
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

SARC

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Common variable immunodeficiency 8, with autoimmunity

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 2198S

Affected site:

Position: 2198
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
2203H LPQTRRISLASP[R/H]RQL 5
distal
2203C LPQTRRISLASP[R/C]RQL 5
distal
2196H LPQTR[R/H]RISLASPRQL 2
network-rewiring
2198L LPQTRRI[S/L]SLASPRQL 0
direct

PTM Site: 2201S

Affected site:

Position: 2201
Residue: S
Type: phosphorylation

Best loss of PTM site:

PRKCE (probability p=0.978)
Site: 2201S (phosphorylation)
Position in motif: 2
There are 3 other predicted losses:
  • PRKCA (p=0.969)
  • PRKCB (p=0.957)
  • PRKCG (p=0.947)

Other known mutations affecting this site

Mutation In sequence Distance Impact
2203H TRRISLASP[R/H]RQLFKA 2
network-rewiring
2203C TRRISLASP[R/C]RQLFKA 2
network-rewiring
2196H TR[R/H]RISLASPRQLFKA 5
network-rewiring
2198L TRRI[S/L]SLASPRQLFKA 3
distal

PTM Site: 2207K

Affected site:

Position: 2207
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
2203H ASP[R/H]RQLFKASNMTQR 4
distal
2203C ASP[R/C]RQLFKASNMTQR 4
distal
2209F ASPRQLFKA[S/F]SNMTQR 2
proximal

External references

dbSNP:

If you have any questions or feedback about this mutation:

Contact us