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Mutation:
MUC1 R446C
Summary
Isoform:
Position:
446
Ref:
R
Mutation:
C
PTM impact:
network-rewiring
PTM affected:
5
Kinases:
PRKCD,
PKC_DELTA,
GSK3B,
GSK-3_BETA,
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: 442S
Affected site:
Position: 442
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 446G | HGRYVPPSSTD[R/G]RSPY | 4 |
distal
|
| 446L | HGRYVPPSSTD[R/L]RSPY | 4 |
distal
|
| 446C | HGRYVPPSSTD[R/C]RSPY | 4 |
distal
|
| 437C | HG[R/C]RYVPPSSTDRSPY | 5 |
distal
|
PTM Site: 444T
Affected site:
Position: 444
Residue: T
Type: phosphorylation
Best loss of PTM site:
PRKCA (probability p=0.956)
Site: 444T (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 |
|---|---|---|---|
| 449C | RYVPPSSTDRSP[Y/C]YEK | 5 |
distal
|
| 446G | RYVPPSSTD[R/G]RSPYEK | 2 |
network-rewiring
|
| 446L | RYVPPSSTD[R/L]RSPYEK | 2 |
network-rewiring
|
| 446C | RYVPPSSTD[R/C]RSPYEK | 2 |
network-rewiring
|
PTM Site: 447S
Affected site:
Position: 447
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 449C | PPSSTDRSP[Y/C]YEKVSA | 2 |
proximal
|
| 446G | PPSSTD[R/G]RSPYEKVSA | 1 |
proximal
|
| 446L | PPSSTD[R/L]RSPYEKVSA | 1 |
proximal
|
| 446C | PPSSTD[R/C]RSPYEKVSA | 1 |
proximal
|
PTM Site: 449Y
Affected site:
Position: 449
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 449C | SSTDRSP[Y/C]YEKVSAGN | 0 |
direct
|
| 446G | SSTD[R/G]RSPYEKVSAGN | 3 |
distal
|
| 446L | SSTD[R/L]RSPYEKVSAGN | 3 |
distal
|
| 446C | SSTD[R/C]RSPYEKVSAGN | 3 |
distal
|
PTM Site: 453S
Affected site:
Position: 453
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 449C | RSP[Y/C]YEKVSAGNGGSS | 4 |
distal
|
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