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Mutation:
BRCA1 V452A
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Hereditary breast and ovarian cancer syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 450K
Affected site:
Position: 450
Residue: K
Type: ubiquitination
Impact:
proximalOther 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:
proximalOther 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
|
PTM Site: 454S
Affected site:
Position: 454
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 460R | VHSKSVESNIEDK[I/R]IF | 6 |
distal
|
| 460T | VHSKSVESNIEDK[I/T]IF | 6 |
distal
|
| 459N | VHSKSVESNIED[K/N]KIF | 5 |
distal
|
| 459Q | VHSKSVESNIED[K/Q]KIF | 5 |
distal
|
| 456T | VHSKSVESN[I/T]IEDKIF | 2 |
proximal
|
| 455D | VHSKSVES[N/D]NIEDKIF | 1 |
proximal
|
| 454N | VHSKSVE[S/N]SNIEDKIF | 0 |
direct
|
| 453Q | VHSKSV[E/Q]ESNIEDKIF | 1 |
proximal
|
| 452A | VHSKS[V/A]VESNIEDKIF | 2 |
proximal
|
| 451A | VHSK[S/A]SVESNIEDKIF | 3 |
distal
|
| 449P | VH[S/P]SKSVESNIEDKIF | 5 |
distal
|
| 448P | V[H/P]HSKSVESNIEDKIF | 6 |
distal
|
| 448Y | V[H/Y]HSKSVESNIEDKIF | 6 |
distal
|
PTM Site: 459K
Affected site:
Position: 459
Residue: K
Type: sumoylation, ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 465C | VESNIEDKIFGKT[Y/C]YR | 6 |
distal
|
| 465D | VESNIEDKIFGKT[Y/D]YR | 6 |
distal
|
| 464I | VESNIEDKIFGK[T/I]TYR | 5 |
distal
|
| 464A | VESNIEDKIFGK[T/A]TYR | 5 |
distal
|
| 463E | VESNIEDKIFG[K/E]KTYR | 4 |
distal
|
| 462R | VESNIEDKIF[G/R]GKTYR | 3 |
distal
|
| 461L | VESNIEDKI[F/L]FGKTYR | 2 |
proximal
|
| 460R | VESNIEDK[I/R]IFGKTYR | 1 |
proximal
|
| 460T | VESNIEDK[I/T]IFGKTYR | 1 |
proximal
|
| 459N | VESNIED[K/N]KIFGKTYR | 0 |
direct
|
| 459Q | VESNIED[K/Q]KIFGKTYR | 0 |
direct
|
| 456T | VESN[I/T]IEDKIFGKTYR | 3 |
distal
|
| 455D | VES[N/D]NIEDKIFGKTYR | 4 |
distal
|
| 454N | VE[S/N]SNIEDKIFGKTYR | 5 |
distal
|
| 453Q | V[E/Q]ESNIEDKIFGKTYR | 6 |
distal
|
External references
dbSNP:
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