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Mutation:
BRCA1 K222R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Breast-ovarian cancer, familial 1, Hereditary cancer-predisposing syndrome
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:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 226S | RDEISLDSAKKAA[C/S]CE | 6 |
distal
|
| 226Y | RDEISLDSAKKAA[C/Y]CE | 6 |
distal
|
| 224V | RDEISLDSAKK[A/V]AACE | 4 |
distal
|
| 224T | RDEISLDSAKK[A/T]AACE | 4 |
distal
|
| 223R | RDEISLDSAK[K/R]KAACE | 3 |
distal
|
| 222R | RDEISLDSA[K/R]KKAACE | 2 |
proximal
|
| 222T | RDEISLDSA[K/T]KKAACE | 2 |
network-rewiring
|
| 221V | RDEISLDS[A/V]AKKAACE | 1 |
proximal
|
| 221S | RDEISLDS[A/S]AKKAACE | 1 |
proximal
|
| 220C | RDEISLD[S/C]SAKKAACE | 0 |
direct
|
| 219H | RDEISL[D/H]DSAKKAACE | 1 |
proximal
|
| 219N | RDEISL[D/N]DSAKKAACE | 1 |
proximal
|
| 217T | RDEI[S/T]SLDSAKKAACE | 3 |
distal
|
| 216M | RDE[I/M]ISLDSAKKAACE | 4 |
distal
|
| 216V | RDE[I/V]ISLDSAKKAACE | 4 |
distal
|
| 214G | R[D/G]DEISLDSAKKAACE | 6 |
distal
|
| 214Y | R[D/Y]DEISLDSAKKAACE | 6 |
distal
|
| 214N | R[D/N]DEISLDSAKKAACE | 6 |
distal
|
| 224S | RDEISLDSAKK[A/S]AACE | 4 |
distal
|
| 223N | RDEISLDSAK[K/N]KAACE | 3 |
distal
|
| 223T | RDEISLDSAK[K/T]KAACE | 3 |
distal
|
PTM Site: 223K
Affected site:
Position: 223
Residue: K
Type: ubiquitination
Impact:
proximalOther 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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