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Mutation:
BRCA1 A504T
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary breast and ovarian cancer syndrome, Hereditary cancer-predisposing 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:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 509N | KVAESAQ[S/N]SPAAAHTT | 0 |
direct
|
| 509C | KVAESAQ[S/C]SPAAAHTT | 0 |
direct
|
| 509G | KVAESAQ[S/G]SPAAAHTT | 0 |
direct
|
| 510L | KVAESAQS[P/L]PAAAHTT | 1 |
network-rewiring
|
| 510S | KVAESAQS[P/S]PAAAHTT | 1 |
network-rewiring
|
External references
dbSNP:
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