You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BRCA1 P510L
Summary
Isoform:
Position:
510
Ref:
P
Mutation:
L
PTM impact:
network-rewiring
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary breast and ovarian cancer syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 509S
Affected site:
Position: 509
Residue: S
Type: phosphorylation
Best loss of PTM site:
MAPK8 (probability p=0.959)
Site: 509S (phosphorylation)
Position in motif: 1
There are 6 other predicted
losses:
- MAPK1 (p=0.956)
- MAPK3 (p=0.945)
- MAPK14 (p=0.914)
- CDK2 (p=0.898)
- CDK1 (p=0.896)
- GSK3B (p=0.882)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 515I | KVAESAQSPAAAH[T/I]TT | 6 |
distal
|
| 514R | KVAESAQSPAAA[H/R]HTT | 5 |
distal
|
| 514Y | KVAESAQSPAAA[H/Y]HTT | 5 |
distal
|
| 513V | KVAESAQSPAA[A/V]AHTT | 4 |
distal
|
| 512V | KVAESAQSPA[A/V]AAHTT | 3 |
distal
|
| 512T | KVAESAQSPA[A/T]AAHTT | 3 |
distal
|
| 511V | KVAESAQSP[A/V]AAAHTT | 2 |
proximal
|
| 511G | KVAESAQSP[A/G]AAAHTT | 2 |
proximal
|
| 511P | KVAESAQSP[A/P]AAAHTT | 2 |
proximal
|
| 511T | KVAESAQSP[A/T]AAAHTT | 2 |
proximal
|
| 510L | KVAESAQS[P/L]PAAAHTT | 1 |
network-rewiring
|
| 510S | KVAESAQS[P/S]PAAAHTT | 1 |
network-rewiring
|
| 509N | KVAESAQ[S/N]SPAAAHTT | 0 |
direct
|
| 509C | KVAESAQ[S/C]SPAAAHTT | 0 |
direct
|
| 509G | KVAESAQ[S/G]SPAAAHTT | 0 |
direct
|
| 508H | KVAESA[Q/H]QSPAAAHTT | 1 |
proximal
|
| 505G | KVA[E/G]ESAQSPAAAHTT | 4 |
distal
|
| 504V | KV[A/V]AESAQSPAAAHTT | 5 |
distal
|
| 504T | KV[A/T]AESAQSPAAAHTT | 5 |
distal
|
PTM Site: 515T
Affected site:
Position: 515
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 521C | QSPAAAHTTDTAG[Y/C]YN | 6 |
distal
|
| 521N | QSPAAAHTTDTAG[Y/N]YN | 6 |
distal
|
| 520E | QSPAAAHTTDTA[G/E]GYN | 5 |
distal
|
| 519G | QSPAAAHTTDT[A/G]AGYN | 4 |
distal
|
| 518S | QSPAAAHTTD[T/S]TAGYN | 3 |
network-rewiring
|
| 518A | QSPAAAHTTD[T/A]TAGYN | 3 |
distal
|
| 517A | QSPAAAHTT[D/A]DTAGYN | 2 |
proximal
|
| 516A | QSPAAAHT[T/A]TDTAGYN | 1 |
proximal
|
| 515I | QSPAAAH[T/I]TTDTAGYN | 0 |
direct
|
| 514R | QSPAAA[H/R]HTTDTAGYN | 1 |
proximal
|
| 514Y | QSPAAA[H/Y]HTTDTAGYN | 1 |
proximal
|
| 513V | QSPAA[A/V]AHTTDTAGYN | 2 |
proximal
|
| 512V | QSPA[A/V]AAHTTDTAGYN | 3 |
distal
|
| 512T | QSPA[A/T]AAHTTDTAGYN | 3 |
distal
|
| 511V | QSP[A/V]AAAHTTDTAGYN | 4 |
distal
|
| 511G | QSP[A/G]AAAHTTDTAGYN | 4 |
distal
|
| 511P | QSP[A/P]AAAHTTDTAGYN | 4 |
distal
|
| 511T | QSP[A/T]AAAHTTDTAGYN | 4 |
distal
|
| 510L | QS[P/L]PAAAHTTDTAGYN | 5 |
distal
|
| 510S | QS[P/S]PAAAHTTDTAGYN | 5 |
distal
|
| 509N | Q[S/N]SPAAAHTTDTAGYN | 6 |
distal
|
| 509C | Q[S/C]SPAAAHTTDTAGYN | 6 |
distal
|
| 509G | Q[S/G]SPAAAHTTDTAGYN | 6 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us