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Mutation:
MUC1 S427R
Summary
Isoform:
Position:
427
Ref:
S
Mutation:
R
PTM impact:
direct
PTM affected:
7
Kinases:
PDGFRB
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: 422T
Affected site:
Position: 422
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 427R | DIFPARDTYHPM[S/R]SEY | 5 |
distal
|
| 419G | DIFP[A/G]ARDTYHPMSEY | 3 |
distal
|
| 419S | DIFP[A/S]ARDTYHPMSEY | 3 |
distal
|
PTM Site: 423Y
Affected site:
Position: 423
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 427R | IFPARDTYHPM[S/R]SEYP | 4 |
distal
|
| 419G | IFP[A/G]ARDTYHPMSEYP | 4 |
distal
|
| 419S | IFP[A/S]ARDTYHPMSEYP | 4 |
distal
|
PTM Site: 427S
Affected site:
Position: 427
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 427R | RDTYHPM[S/R]SEYPTYHT | 0 |
direct
|
PTM Site: 429Y
Affected site:
Position: 429
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 427R | TYHPM[S/R]SEYPTYHTHG | 2 |
proximal
|
PTM Site: 431T
Affected site:
Position: 431
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 427R | HPM[S/R]SEYPTYHTHGRY | 4 |
distal
|
| 437C | HPMSEYPTYHTHG[R/C]RY | 6 |
distal
|
PTM Site: 432Y
Affected site:
Position: 432
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 427R | PM[S/R]SEYPTYHTHGRYV | 5 |
distal
|
| 437C | PMSEYPTYHTHG[R/C]RYV | 5 |
distal
|
PTM Site: 434T
Affected site:
Position: 434
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 437C | SEYPTYHTHG[R/C]RYVPP | 3 |
distal
|
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