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Mutation:
CTNND1 R252H
Summary
Isoform:
Position:
252
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
6
Kinases:
MAPK1,
MAPK3,
MAPK1,
MAPK3
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)
[0.0399361]
PTM Site: 246S
Affected site:
Position: 246
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 245I | DLDYGM[M/I]MSDYGTARR | 1 |
proximal
|
| 252H | DLDYGMMSDYGTA[R/H]RR | 6 |
distal
|
| 245L | DLDYGM[M/L]MSDYGTARR | 1 |
proximal
|
PTM Site: 248Y
Affected site:
Position: 248
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 245I | DYGM[M/I]MSDYGTARRTG | 3 |
distal
|
| 253Q | DYGMMSDYGTAR[R/Q]RTG | 5 |
distal
|
| 252H | DYGMMSDYGTA[R/H]RRTG | 4 |
distal
|
| 245L | DYGM[M/L]MSDYGTARRTG | 3 |
distal
|
PTM Site: 250T
Affected site:
Position: 250
Residue: T
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.962)
Site: 254T (phosphorylation)
Position in motif: -2
There are 5 other predicted
losses:
- AURKB (p=0.958)
- PRKG1 (p=0.938)
- PRKCD (p=0.904)
- ROCK1 (p=0.894)
- PRKCG (p=0.858)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 245I | GM[M/I]MSDYGTARRTGTP | 5 |
distal
|
| 253Q | GMMSDYGTAR[R/Q]RTGTP | 3 |
distal
|
| 252H | GMMSDYGTA[R/H]RRTGTP | 2 |
network-rewiring
|
| 245L | GM[M/L]MSDYGTARRTGTP | 5 |
distal
|
PTM Site: 254T
Affected site:
Position: 254
Residue: T
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.962)
Site: 254T (phosphorylation)
Position in motif: -2
There are 5 other predicted
losses:
- AURKB (p=0.958)
- PRKG1 (p=0.938)
- PRKCD (p=0.904)
- ROCK1 (p=0.894)
- PRKCG (p=0.858)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 253Q | DYGTAR[R/Q]RTGTPSDPR | 1 |
proximal
|
| 252H | DYGTA[R/H]RRTGTPSDPR | 2 |
network-rewiring
|
| 258C | DYGTARRTGTP[S/C]SDPR | 4 |
distal
|
PTM Site: 256T
Affected site:
Position: 256
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 253Q | GTAR[R/Q]RTGTPSDPRRR | 3 |
network-rewiring
|
| 261C | GTARRTGTPSDP[R/C]RRR | 5 |
distal
|
| 252H | GTA[R/H]RRTGTPSDPRRR | 4 |
distal
|
| 258C | GTARRTGTP[S/C]SDPRRR | 2 |
proximal
|
| 261G | GTARRTGTPSDP[R/G]RRR | 5 |
distal
|
PTM Site: 258S
Affected site:
Position: 258
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 253Q | AR[R/Q]RTGTPSDPRRRLR | 5 |
network-rewiring
|
| 261C | ARRTGTPSDP[R/C]RRRLR | 3 |
distal
|
| 252H | A[R/H]RRTGTPSDPRRRLR | 6 |
distal
|
| 263H | ARRTGTPSDPRR[R/H]RLR | 5 |
distal
|
| 258C | ARRTGTP[S/C]SDPRRRLR | 0 |
direct
|
| 261G | ARRTGTPSDP[R/G]RRRLR | 3 |
distal
|
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