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Summary

Isoform:
Position:
12
Ref:
P
Mutation:
L
PTM impact:
distal
PTM affected:
4
Kinases:
CSNK1A1, CSNK1D, PRKDC, CSNK1A1, ATM, DNA-PK, NUAK1, DYRK1A, MAPK3, CDK5, TP53RK, STK11, BTK, ATR, CHEK1, CHEK2, MAPK14, ATM, SMG1, MAPK1, PRKDC, CK1 group, CSNK1D, PRKAA1, DAPK1, CSNK1A1, CSNK2B, ATR, VRK1, CHEK1, CHEK2, CSNK2A1, TTK, PRKDC

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)

no data

PTM Site: 6S

Affected site:

Position: 6
Residue: S
Type: phosphorylation

Impact:

distal

PTM Site: 9S

Affected site:

Position: 9
Residue: S
Type: phosphorylation

Impact:

distal

PTM Site: 15S

Affected site:

Position: 15
Residue: S
Type: phosphorylation

Impact:

distal

PTM Site: 18T

Affected site:

Position: 18
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
20L EPPLSQETF[S/L]SDLWKL 2
proximal
20P EPPLSQETF[S/P]SDLWKL 2
proximal
16H EPPLS[Q/H]QETFSDLWKL 2
proximal
16R EPPLS[Q/R]QETFSDLWKL 2
network-rewiring
14V EPP[L/V]LSQETFSDLWKL 4
distal
13L EP[P/L]PLSQETFSDLWKL 5
distal
13R EP[P/R]PLSQETFSDLWKL 5
network-rewiring
13S EP[P/S]PLSQETFSDLWKL 5
distal
12L E[P/L]PPLSQETFSDLWKL 6
distal
12R E[P/R]PPLSQETFSDLWKL 6
distal
12H E[P/H]PPLSQETFSDLWKL 6
distal

External references

dbSNP:

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