You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BCLAF1 P214S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0154]
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 |
|---|---|---|---|
| 214S | EFNKSSATSGDIW[P/S]PG | 6 |
distal
|
| 210D | EFNKSSATS[G/D]GDIWPG | 2 |
proximal
|
| 210S | EFNKSSATS[G/S]GDIWPG | 2 |
proximal
|
| 209C | EFNKSSAT[S/C]SGDIWPG | 1 |
proximal
|
PTM Site: 209S
Affected site:
Position: 209
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 214S | FNKSSATSGDIW[P/S]PGL | 5 |
distal
|
| 210D | FNKSSATS[G/D]GDIWPGL | 1 |
proximal
|
| 210S | FNKSSATS[G/S]GDIWPGL | 1 |
proximal
|
| 209C | FNKSSAT[S/C]SGDIWPGL | 0 |
direct
|
PTM Site: 217S
Affected site:
Position: 217
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 214S | GDIW[P/S]PGLSAYDNSPR | 3 |
distal
|
| 220E | GDIWPGLSAY[D/E]DNSPR | 3 |
distal
|
| 220H | GDIWPGLSAY[D/H]DNSPR | 3 |
distal
|
| 221I | GDIWPGLSAYD[N/I]NSPR | 4 |
distal
|
PTM Site: 219Y
Affected site:
Position: 219
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 214S | IW[P/S]PGLSAYDNSPRSP | 5 |
distal
|
| 220E | IWPGLSAY[D/E]DNSPRSP | 1 |
proximal
|
| 220H | IWPGLSAY[D/H]DNSPRSP | 1 |
proximal
|
| 224I | IWPGLSAYDNSP[R/I]RSP | 5 |
distal
|
| 221I | IWPGLSAYD[N/I]NSPRSP | 2 |
proximal
|
If you have any questions or feedback about this mutation:
Contact us