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Mutation:
BRCA1 S229F
Summary
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: 223K
Affected site:
Position: 223
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 229F | ISLDSAKKAACEF[S/F]SE | 6 |
distal
|
| 228Y | ISLDSAKKAACE[F/Y]FSE | 5 |
distal
|
| 226S | ISLDSAKKAA[C/S]CEFSE | 3 |
distal
|
| 226Y | ISLDSAKKAA[C/Y]CEFSE | 3 |
distal
|
| 224V | ISLDSAKK[A/V]AACEFSE | 1 |
proximal
|
| 224T | ISLDSAKK[A/T]AACEFSE | 1 |
proximal
|
| 223R | ISLDSAK[K/R]KAACEFSE | 0 |
direct
|
| 222R | ISLDSA[K/R]KKAACEFSE | 1 |
proximal
|
| 222T | ISLDSA[K/T]KKAACEFSE | 1 |
proximal
|
| 221V | ISLDS[A/V]AKKAACEFSE | 2 |
proximal
|
| 221S | ISLDS[A/S]AKKAACEFSE | 2 |
proximal
|
| 220C | ISLD[S/C]SAKKAACEFSE | 3 |
distal
|
| 219H | ISL[D/H]DSAKKAACEFSE | 4 |
distal
|
| 219N | ISL[D/N]DSAKKAACEFSE | 4 |
distal
|
| 217T | I[S/T]SLDSAKKAACEFSE | 6 |
distal
|
| 224S | ISLDSAKK[A/S]AACEFSE | 1 |
proximal
|
| 223N | ISLDSAK[K/N]KAACEFSE | 0 |
direct
|
| 223T | ISLDSAK[K/T]KAACEFSE | 0 |
direct
|
External references
dbSNP:
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