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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
CTNND1 G227V
Summary
Isoform:
Position:
227
Ref:
G
Mutation:
V
PTM impact:
proximal
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0078]
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 226Y
Affected site:
Position: 226
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 220C | H[R/C]RFHPEPYGLEDDQR | 6 |
distal
|
| 227V | HRFHPEPY[G/V]GLEDDQR | 1 |
proximal
|
| 226C | HRFHPEP[Y/C]YGLEDDQR | 0 |
direct
|
PTM Site: 234S
Affected site:
Position: 234
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 233H | GLEDDQ[R/H]RSMGYDDLD | 1 |
proximal
|
| 236C | GLEDDQRSM[G/C]GYDDLD | 2 |
proximal
|
| 239N | GLEDDQRSMGYD[D/N]DLD | 5 |
distal
|
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