You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BRCA1 S509C
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Breast-ovarian cancer, familial 1, 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: 509S
Affected site:
Position: 509
Residue: S
Type: phosphorylation
Impact:
directOther 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