You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BRCA1 A439T
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 434S
Affected site:
Position: 434
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 440S | EKIDLLASDPHEA[L/S]LI | 6 |
distal
|
| 439G | EKIDLLASDPHE[A/G]ALI | 5 |
distal
|
| 439S | EKIDLLASDPHE[A/S]ALI | 5 |
distal
|
| 439T | EKIDLLASDPHE[A/T]ALI | 5 |
distal
|
| 437R | EKIDLLASDP[H/R]HEALI | 3 |
distal
|
| 437P | EKIDLLASDP[H/P]HEALI | 3 |
distal
|
| 437Y | EKIDLLASDP[H/Y]HEALI | 3 |
distal
|
| 434N | EKIDLLA[S/N]SDPHEALI | 0 |
direct
|
| 434G | EKIDLLA[S/G]SDPHEALI | 0 |
direct
|
| 434R | EKIDLLA[S/R]SDPHEALI | 0 |
direct
|
| 432P | EKIDL[L/P]LASDPHEALI | 2 |
proximal
|
| 432M | EKIDL[L/M]LASDPHEALI | 2 |
proximal
|
| 431I | EKID[L/I]LLASDPHEALI | 3 |
distal
|
| 430G | EKI[D/G]DLLASDPHEALI | 4 |
distal
|
| 429R | EK[I/R]IDLLASDPHEALI | 5 |
network-rewiring
|
| 429T | EK[I/T]IDLLASDPHEALI | 5 |
distal
|
PTM Site: 443K
Affected site:
Position: 443
Residue: K
Type: ubiquitination, sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 449P | PHEALICKSERVH[S/P]SK | 6 |
distal
|
| 448P | PHEALICKSERV[H/P]HSK | 5 |
distal
|
| 448Y | PHEALICKSERV[H/Y]HSK | 5 |
distal
|
| 447I | PHEALICKSER[V/I]VHSK | 4 |
distal
|
| 446G | PHEALICKSE[R/G]RVHSK | 3 |
distal
|
| 445G | PHEALICKS[E/G]ERVHSK | 2 |
proximal
|
| 445Q | PHEALICKS[E/Q]ERVHSK | 2 |
proximal
|
| 444R | PHEALICK[S/R]SERVHSK | 1 |
proximal
|
| 444N | PHEALICK[S/N]SERVHSK | 1 |
proximal
|
| 442R | PHEALI[C/R]CKSERVHSK | 1 |
proximal
|
| 442S | PHEALI[C/S]CKSERVHSK | 1 |
proximal
|
| 441M | PHEAL[I/M]ICKSERVHSK | 2 |
proximal
|
| 441T | PHEAL[I/T]ICKSERVHSK | 2 |
proximal
|
| 441V | PHEAL[I/V]ICKSERVHSK | 2 |
proximal
|
| 440S | PHEA[L/S]LICKSERVHSK | 3 |
distal
|
| 439G | PHE[A/G]ALICKSERVHSK | 4 |
distal
|
| 439S | PHE[A/S]ALICKSERVHSK | 4 |
distal
|
| 439T | PHE[A/T]ALICKSERVHSK | 4 |
distal
|
| 437R | P[H/R]HEALICKSERVHSK | 6 |
distal
|
| 437P | P[H/P]HEALICKSERVHSK | 6 |
distal
|
| 437Y | P[H/Y]HEALICKSERVHSK | 6 |
distal
|
| 446T | PHEALICKSE[R/T]RVHSK | 3 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us