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Mutation:
BRCA1 T518S
Summary
Isoform:
Position:
518
Ref:
T
Mutation:
S
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
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: 515T
Affected site:
Position: 515
Residue: T
Type: phosphorylation
Only gain of PTM site:
CSNK1E (probability p=0.875)
Site: 515T (phosphorylation)
Position in motif: 3
Other 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:
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