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Mutation:
CTNND1 M245I
Summary
Isoform:
Position:
245
Ref:
M
Mutation:
I
PTM impact:
proximal
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0079]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 242Y
Affected site:
Position: 242
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 245I | MGYDDLDYGM[M/I]MSDYG | 3 |
distal
|
| 236C | M[G/C]GYDDLDYGMMSDYG | 6 |
distal
|
| 239N | MGYD[D/N]DLDYGMMSDYG | 3 |
distal
|
| 245L | MGYDDLDYGM[M/L]MSDYG | 3 |
distal
|
PTM Site: 246S
Affected site:
Position: 246
Residue: S
Type: phosphorylation
Impact:
proximalOther 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
Impact:
distalOther 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
|
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