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Mutation:
MUC1 R244C
Summary
Isoform:
Position:
244
Ref:
R
Mutation:
C
PTM impact:
proximal
PTM affected:
6
Kinases:
PDGFRB,
PRKCD,
PKC_DELTA
Clinical Information
Cancer types: (TCGA MC3)
SARC
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 238T
Affected site:
Position: 238
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 234R | HPM[S/R]SEYPTYHTHGRY | 4 |
distal
|
| 244C | HPMSEYPTYHTHG[R/C]RY | 6 |
distal
|
PTM Site: 239Y
Affected site:
Position: 239
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 234R | PM[S/R]SEYPTYHTHGRYV | 5 |
distal
|
| 244C | PMSEYPTYHTHG[R/C]RYV | 5 |
distal
|
PTM Site: 241T
Affected site:
Position: 241
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 244C | SEYPTYHTHG[R/C]RYVPP | 3 |
distal
|
PTM Site: 245Y
Affected site:
Position: 245
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 244C | TYHTHG[R/C]RYVPPSSTD | 1 |
proximal
|
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
Impact:
distalOther 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
|
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