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Mutation:
BRCA1 D214Y
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: 208T
Affected site:
Position: 208
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 214G | DQELLQITPQGTR[D/G]DE | 6 |
distal
|
| 214Y | DQELLQITPQGTR[D/Y]DE | 6 |
distal
|
| 214N | DQELLQITPQGTR[D/N]DE | 6 |
distal
|
| 213S | DQELLQITPQGT[R/S]RDE | 5 |
distal
|
| 213K | DQELLQITPQGT[R/K]RDE | 5 |
distal
|
| 213G | DQELLQITPQGT[R/G]RDE | 5 |
distal
|
| 212I | DQELLQITPQG[T/I]TRDE | 4 |
distal
|
| 211R | DQELLQITPQ[G/R]GTRDE | 3 |
distal
|
| 210R | DQELLQITP[Q/R]QGTRDE | 2 |
network-rewiring
|
| 210E | DQELLQITP[Q/E]QGTRDE | 2 |
proximal
|
| 209L | DQELLQIT[P/L]PQGTRDE | 1 |
network-rewiring
|
| 209R | DQELLQIT[P/R]PQGTRDE | 1 |
network-rewiring
|
| 209S | DQELLQIT[P/S]PQGTRDE | 1 |
network-rewiring
|
| 208A | DQELLQI[T/A]TPQGTRDE | 0 |
direct
|
| 207V | DQELLQ[I/V]ITPQGTRDE | 1 |
proximal
|
| 206P | DQELL[Q/P]QITPQGTRDE | 2 |
proximal
|
| 206E | DQELL[Q/E]QITPQGTRDE | 2 |
network-rewiring
|
| 204F | DQE[L/F]LLQITPQGTRDE | 4 |
distal
|
| 204W | DQE[L/W]LLQITPQGTRDE | 4 |
distal
|
| 203K | DQ[E/K]ELLQITPQGTRDE | 5 |
distal
|
| 202P | D[Q/P]QELLQITPQGTRDE | 6 |
distal
|
| 202K | D[Q/K]QELLQITPQGTRDE | 6 |
distal
|
PTM Site: 220S
Affected site:
Position: 220
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
External references
dbSNP:
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