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Mutation:
BRCA1 A224S
Summary
Clinical Information
Cancer types: (TCGA MC3)
LUSC
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 220S
Affected site:
Position: 220
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 220C | RDEISLD[S/C]SAKKAACE | 0 |
direct
|
| 221V | RDEISLDS[A/V]AKKAACE | 1 |
proximal
|
| 221S | RDEISLDS[A/S]AKKAACE | 1 |
proximal
|
| 219H | RDEISL[D/H]DSAKKAACE | 1 |
proximal
|
| 219N | RDEISL[D/N]DSAKKAACE | 1 |
proximal
|
PTM Site: 223K
Affected site:
Position: 223
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 223R | ISLDSAK[K/R]KAACEFSE | 0 |
direct
|
| 223N | ISLDSAK[K/N]KAACEFSE | 0 |
direct
|
| 223T | ISLDSAK[K/T]KAACEFSE | 0 |
direct
|
| 224V | ISLDSAKK[A/V]AACEFSE | 1 |
proximal
|
| 224T | ISLDSAKK[A/T]AACEFSE | 1 |
proximal
|
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