You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
MUC1 R437C
Summary
Isoform:
Position:
437
Ref:
R
Mutation:
C
PTM impact:
proximal
PTM affected:
6
Kinases:
PDGFRB,
PKC_DELTA,
PRKCD
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: 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
|
PTM Site: 438Y
Affected site:
Position: 438
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 437C | TYHTHG[R/C]RYVPPSSTD | 1 |
proximal
|
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
Impact:
distalOther 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
|
If you have any questions or feedback about this mutation:
Contact us