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Mutation:
BRCA1 R466Q
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary breast and ovarian cancer syndrome, Breast-ovarian cancer, familial 1, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 459K
Affected site:
Position: 459
Residue: K
Type: ubiquitination, sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 465C | VESNIEDKIFGKT[Y/C]YR | 6 |
distal
|
| 465D | VESNIEDKIFGKT[Y/D]YR | 6 |
distal
|
| 464I | VESNIEDKIFGK[T/I]TYR | 5 |
distal
|
| 464A | VESNIEDKIFGK[T/A]TYR | 5 |
distal
|
| 463E | VESNIEDKIFG[K/E]KTYR | 4 |
distal
|
| 462R | VESNIEDKIF[G/R]GKTYR | 3 |
distal
|
| 461L | VESNIEDKI[F/L]FGKTYR | 2 |
proximal
|
| 460R | VESNIEDK[I/R]IFGKTYR | 1 |
proximal
|
| 460T | VESNIEDK[I/T]IFGKTYR | 1 |
proximal
|
| 459N | VESNIED[K/N]KIFGKTYR | 0 |
direct
|
| 459Q | VESNIED[K/Q]KIFGKTYR | 0 |
direct
|
| 456T | VESN[I/T]IEDKIFGKTYR | 3 |
distal
|
| 455D | VES[N/D]NIEDKIFGKTYR | 4 |
distal
|
| 454N | VE[S/N]SNIEDKIFGKTYR | 5 |
distal
|
| 453Q | V[E/Q]ESNIEDKIFGKTYR | 6 |
distal
|
PTM Site: 463K
Affected site:
Position: 463
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 469G | IEDKIFGKTYRKK[A/G]AS | 6 |
distal
|
| 469T | IEDKIFGKTYRKK[A/T]AS | 6 |
distal
|
| 467R | IEDKIFGKTYR[K/R]KKAS | 4 |
distal
|
| 466Q | IEDKIFGKTY[R/Q]RKKAS | 3 |
distal
|
| 466W | IEDKIFGKTY[R/W]RKKAS | 3 |
distal
|
| 466G | IEDKIFGKTY[R/G]RKKAS | 3 |
distal
|
| 465C | IEDKIFGKT[Y/C]YRKKAS | 2 |
proximal
|
| 465D | IEDKIFGKT[Y/D]YRKKAS | 2 |
proximal
|
| 464I | IEDKIFGK[T/I]TYRKKAS | 1 |
proximal
|
| 464A | IEDKIFGK[T/A]TYRKKAS | 1 |
proximal
|
| 463E | IEDKIFG[K/E]KTYRKKAS | 0 |
direct
|
| 462R | IEDKIF[G/R]GKTYRKKAS | 1 |
proximal
|
| 461L | IEDKI[F/L]FGKTYRKKAS | 2 |
proximal
|
| 460R | IEDK[I/R]IFGKTYRKKAS | 3 |
distal
|
| 460T | IEDK[I/T]IFGKTYRKKAS | 3 |
distal
|
| 459N | IED[K/N]KIFGKTYRKKAS | 4 |
distal
|
| 459Q | IED[K/Q]KIFGKTYRKKAS | 4 |
distal
|
External references
dbSNP:
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