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Mutation:
RAD51C S329L
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Fanconi anemia, complementation group O
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 328K
Affected site:
Position: 328
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 322K | Q[R/K]RLATLYKSPSQKEC | 6 |
distal
|
| 322T | Q[R/T]RLATLYKSPSQKEC | 6 |
distal
|
| 322S | Q[R/S]RLATLYKSPSQKEC | 6 |
distal
|
| 323W | QR[L/W]LATLYKSPSQKEC | 5 |
distal
|
| 324T | QRL[A/T]ATLYKSPSQKEC | 4 |
distal
|
| 325A | QRLA[T/A]TLYKSPSQKEC | 3 |
distal
|
| 326S | QRLAT[L/S]LYKSPSQKEC | 2 |
proximal
|
| 326W | QRLAT[L/W]LYKSPSQKEC | 2 |
proximal
|
| 326F | QRLAT[L/F]LYKSPSQKEC | 2 |
proximal
|
| 327C | QRLATL[Y/C]YKSPSQKEC | 1 |
proximal
|
| 328E | QRLATLY[K/E]KSPSQKEC | 0 |
direct
|
| 329L | QRLATLYK[S/L]SPSQKEC | 1 |
proximal
|
| 330S | QRLATLYKS[P/S]PSQKEC | 2 |
proximal
|
| 330L | QRLATLYKS[P/L]PSQKEC | 2 |
proximal
|
| 331I | QRLATLYKSP[S/I]SQKEC | 3 |
distal
|
| 331R | QRLATLYKSP[S/R]SQKEC | 3 |
distal
|
| 332K | QRLATLYKSPS[Q/K]QKEC | 4 |
distal
|
| 330H | QRLATLYKS[P/H]PSQKEC | 2 |
proximal
|
External references
dbSNP:
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