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Mutation:
ESR2 R197Q
Summary
Isoform:
Position:
197
Ref:
R
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)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 200S
Affected site:
Position: 200
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.961)
Site: 200S (phosphorylation)
Position in motif: -3
There are 3 other predicted
losses:
- PAK1 (p=0.953)
- PRKAA1 (p=0.866)
- PIM1 (p=0.854)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 194N | I[D/N]DKNRRKSCQACRLR | 6 |
distal
|
| 197Q | IDKN[R/Q]RRKSCQACRLR | 3 |
network-rewiring
|
| 206I | IDKNRRKSCQACR[L/I]LR | 6 |
distal
|
| 197W | IDKN[R/W]RRKSCQACRLR | 3 |
network-rewiring
|
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