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Mutation:
MUC1 R253C
Summary
Isoform:
Position:
253
Ref:
R
Mutation:
C
PTM impact:
network-rewiring
PTM affected:
5
Kinases:
PKC_DELTA,
PRKCD,
GSK-3_BETA,
GSK3B,
SRC,
EGFR
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)
[0.059904200000000005]
PTM Site: 249S
Affected site:
Position: 249
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 253G | HGRYVPPSSTD[R/G]RSPY | 4 |
distal
|
| 253L | HGRYVPPSSTD[R/L]RSPY | 4 |
distal
|
| 253C | HGRYVPPSSTD[R/C]RSPY | 4 |
distal
|
| 244C | HG[R/C]RYVPPSSTDRSPY | 5 |
distal
|
PTM Site: 251T
Affected site:
Position: 251
Residue: T
Type: phosphorylation
Best loss of PTM site:
PRKCA (probability p=0.956)
Site: 251T (phosphorylation)
Position in motif: 2
There is 1 other predicted
loss:
- PRKCB (p=0.948)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 256C | RYVPPSSTDRSP[Y/C]YEK | 5 |
distal
|
| 253G | RYVPPSSTD[R/G]RSPYEK | 2 |
network-rewiring
|
| 253L | RYVPPSSTD[R/L]RSPYEK | 2 |
network-rewiring
|
| 253C | RYVPPSSTD[R/C]RSPYEK | 2 |
network-rewiring
|
PTM Site: 254S
Affected site:
Position: 254
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 256C | PPSSTDRSP[Y/C]YEKVSA | 2 |
proximal
|
| 253G | PPSSTD[R/G]RSPYEKVSA | 1 |
proximal
|
| 253L | PPSSTD[R/L]RSPYEKVSA | 1 |
proximal
|
| 253C | PPSSTD[R/C]RSPYEKVSA | 1 |
proximal
|
PTM Site: 256Y
Affected site:
Position: 256
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 256C | SSTDRSP[Y/C]YEKVSAGN | 0 |
direct
|
| 253G | SSTD[R/G]RSPYEKVSAGN | 3 |
distal
|
| 253L | SSTD[R/L]RSPYEKVSAGN | 3 |
distal
|
| 253C | SSTD[R/C]RSPYEKVSAGN | 3 |
distal
|
PTM Site: 260S
Affected site:
Position: 260
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 256C | RSP[Y/C]YEKVSAGNGGSS | 4 |
distal
|
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