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Mutation:
MSH6 E52Q
Summary
Isoform:
Position:
52
Ref:
E
Mutation:
Q
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary nonpolyposis colorectal neoplasms
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 51S
Affected site:
Position: 51
Residue: S
Type: phosphorylation
Best gain of PTM site:
ATR (probability p=0.927)
Site: 51S (phosphorylation)
Position in motif: 1
There is 1 other predicted
gain:
- ATM (p=0.887)
Other known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 51G | PGGDAAW[S/G]SEAGPGPR | 0 |
direct
|
| 51I | PGGDAAW[S/I]SEAGPGPR | 0 |
direct
|
| 51R | PGGDAAW[S/R]SEAGPGPR | 0 |
direct
|
| 50R | PGGDAA[W/R]WSEAGPGPR | 1 |
proximal
|
| 50C | PGGDAA[W/C]WSEAGPGPR | 1 |
proximal
|
External references
dbSNP:
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