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Mutation:
BRCA1 A469G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Breast-ovarian cancer, familial 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
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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