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Summary

Isoform:
Position:
27
Ref:
P
Mutation:
R
PTM impact:
distal
PTM affected:
3
Kinases:
ATM, PRKDC, CSNK1A1, ATR, PRKAA1, CDK5, PLK3, DAPK1, CHK2, CHEK1, STK17A, MAPK9, CSNK1D, CHEK2, MAPK8, CHK1, MAPKAPK2, DAPK3, GSK-3 group, CDK group, ATM, PRKDC, CDK5, CDK7, GSK3B, CDK9, MAPK12, MAPK14

Clinical Information

Cancer types: (TCGA MC3)

no data

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: 20S

Affected site:

Position: 20
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
26I PLSQETFSDLWKL[L/I]LP 6
distal
20L PLSQETF[S/L]SDLWKLLP 0
direct
20P PLSQETF[S/P]SDLWKLLP 0
direct
16H PLS[Q/H]QETFSDLWKLLP 4
distal
16R PLS[Q/R]QETFSDLWKLLP 4
distal
14V P[L/V]LSQETFSDLWKLLP 6
distal

PTM Site: 24K

Affected site:

Position: 24
Residue: K
Type: ubiquitination

Impact:

distal

PTM Site: 33S

Affected site:

Position: 33
Residue: S
Type: phosphorylation

Impact:

distal

External references

dbSNP:

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