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Mutation:
CTNND1 R195Q
Summary
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: 188R
Affected site:
Position: 188
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 182C | T[R/C]RIEERYRPSMEGYR | 6 |
distal
|
| 185G | TRIE[E/G]ERYRPSMEGYR | 3 |
distal
|
PTM Site: 190S
Affected site:
Position: 190
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 185G | IE[E/G]ERYRPSMEGYRAP | 5 |
distal
|
| 195Q | IEERYRPSMEGY[R/Q]RAP | 5 |
distal
|
PTM Site: 194Y
Affected site:
Position: 194
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 200H | YRPSMEGYRAPSR[Q/H]QD | 6 |
distal
|
| 195Q | YRPSMEGY[R/Q]RAPSRQD | 1 |
proximal
|
PTM Site: 195R
Affected site:
Position: 195
Residue: R
Type: methylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 200H | RPSMEGYRAPSR[Q/H]QDV | 5 |
distal
|
| 195Q | RPSMEGY[R/Q]RAPSRQDV | 0 |
direct
|
PTM Site: 198S
Affected site:
Position: 198
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.966)
Site: 198S (phosphorylation)
Position in motif: -3
There are 4 other predicted
losses:
- PAK1 (p=0.927)
- AKT1 (p=0.891)
- PRKAA1 (p=0.869)
- CAMK2A (p=0.858)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 200H | MEGYRAPSR[Q/H]QDVYGP | 2 |
proximal
|
| 195Q | MEGY[R/Q]RAPSRQDVYGP | 3 |
network-rewiring
|
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