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Mutation:
BCLAF1 E201K
Summary
Isoform:
Position:
201
Ref:
E
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
SKCM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 196S
Affected site:
Position: 196
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 191L | DT[F/L]FEHDPSESIDEFN | 5 |
distal
|
| 201K | DTFEHDPSESID[E/K]EFN | 5 |
distal
|
PTM Site: 198S
Affected site:
Position: 198
Residue: S
Type: phosphorylation
Best loss of PTM site:
CSNK2A1 (probability p=0.927)
Site: 198S (phosphorylation)
Position in motif: 3
There is 1 other predicted
loss:
- CSNK2A2 (p=0.894)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 201K | FEHDPSESID[E/K]EFNKS | 3 |
network-rewiring
|
PTM Site: 206S
Affected site:
Position: 206
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 210D | IDEFNKSSATS[G/D]GDIW | 4 |
distal
|
| 210S | IDEFNKSSATS[G/S]GDIW | 4 |
distal
|
| 209C | IDEFNKSSAT[S/C]SGDIW | 3 |
distal
|
| 201K | ID[E/K]EFNKSSATSGDIW | 5 |
distal
|
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
|
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