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Mutation:
BRCA1 A504V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Breast-ovarian cancer, familial 1
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:
distalOther 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
|
External references
dbSNP:
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