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Mutation:
BRCA1 S444R
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: 443K
Affected site:
Position: 443
Residue: K
Type: sumoylation, ubiquitination
Impact:
proximalOther 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
|
PTM Site: 450K
Affected site:
Position: 450
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 456T | KSERVHSKSVESN[I/T]IE | 6 |
distal
|
| 455D | KSERVHSKSVES[N/D]NIE | 5 |
distal
|
| 454N | KSERVHSKSVE[S/N]SNIE | 4 |
distal
|
| 453Q | KSERVHSKSV[E/Q]ESNIE | 3 |
distal
|
| 452A | KSERVHSKS[V/A]VESNIE | 2 |
proximal
|
| 451A | KSERVHSK[S/A]SVESNIE | 1 |
proximal
|
| 449P | KSERVH[S/P]SKSVESNIE | 1 |
proximal
|
| 448P | KSERV[H/P]HSKSVESNIE | 2 |
proximal
|
| 448Y | KSERV[H/Y]HSKSVESNIE | 2 |
proximal
|
| 447I | KSER[V/I]VHSKSVESNIE | 3 |
distal
|
| 446G | KSE[R/G]RVHSKSVESNIE | 4 |
distal
|
| 445G | KS[E/G]ERVHSKSVESNIE | 5 |
distal
|
| 445Q | KS[E/Q]ERVHSKSVESNIE | 5 |
distal
|
| 444R | K[S/R]SERVHSKSVESNIE | 6 |
distal
|
| 444N | K[S/N]SERVHSKSVESNIE | 6 |
distal
|
| 446T | KSE[R/T]RVHSKSVESNIE | 4 |
distal
|
PTM Site: 451S
Affected site:
Position: 451
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 456T | SERVHSKSVESN[I/T]IED | 5 |
distal
|
| 455D | SERVHSKSVES[N/D]NIED | 4 |
distal
|
| 454N | SERVHSKSVE[S/N]SNIED | 3 |
distal
|
| 453Q | SERVHSKSV[E/Q]ESNIED | 2 |
proximal
|
| 452A | SERVHSKS[V/A]VESNIED | 1 |
proximal
|
| 451A | SERVHSK[S/A]SVESNIED | 0 |
direct
|
| 449P | SERVH[S/P]SKSVESNIED | 2 |
proximal
|
| 448P | SERV[H/P]HSKSVESNIED | 3 |
distal
|
| 448Y | SERV[H/Y]HSKSVESNIED | 3 |
distal
|
| 447I | SER[V/I]VHSKSVESNIED | 4 |
distal
|
| 446G | SE[R/G]RVHSKSVESNIED | 5 |
network-rewiring
|
| 445G | S[E/G]ERVHSKSVESNIED | 6 |
distal
|
| 445Q | S[E/Q]ERVHSKSVESNIED | 6 |
distal
|
| 446T | SE[R/T]RVHSKSVESNIED | 5 |
network-rewiring
|
External references
dbSNP:
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