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Mutation:
BCLAF1 R117K
Summary
Isoform:
Position:
117
Ref:
R
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
3
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: 119S
Affected site:
Position: 119
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.949)
Site: 122S (phosphorylation)
Position in motif: -5
There is 1 other predicted
loss:
- PRKCD (p=0.887)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 120F | SRSPKRRS[V/F]VSSQRSR | 1 |
proximal
|
| 118I | SRSPKR[R/I]RSVSSQRSR | 1 |
proximal
|
| 125F | SRSPKRRSVSSQR[S/F]SR | 6 |
distal
|
| 117K | SRSPK[R/K]RRSVSSQRSR | 2 |
network-rewiring
|
| 120L | SRSPKRRS[V/L]VSSQRSR | 1 |
proximal
|
| 124S | SRSPKRRSVSSQ[R/S]RSR | 5 |
distal
|
PTM Site: 121S
Affected site:
Position: 121
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 120F | SPKRRS[V/F]VSSQRSRSR | 1 |
proximal
|
| 118I | SPKR[R/I]RSVSSQRSRSR | 3 |
network-rewiring
|
| 125F | SPKRRSVSSQR[S/F]SRSR | 4 |
distal
|
| 117K | SPK[R/K]RRSVSSQRSRSR | 4 |
distal
|
| 120L | SPKRRS[V/L]VSSQRSRSR | 1 |
proximal
|
| 124S | SPKRRSVSSQ[R/S]RSRSR | 3 |
network-rewiring
|
PTM Site: 122S
Affected site:
Position: 122
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.949)
Site: 122S (phosphorylation)
Position in motif: -5
There is 1 other predicted
loss:
- PRKCD (p=0.887)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 128K | PKRRSVSSQRSRS[R/K]RS | 6 |
distal
|
| 128I | PKRRSVSSQRSRS[R/I]RS | 6 |
distal
|
| 120F | PKRRS[V/F]VSSQRSRSRS | 2 |
proximal
|
| 118I | PKR[R/I]RSVSSQRSRSRS | 4 |
distal
|
| 125F | PKRRSVSSQR[S/F]SRSRS | 3 |
network-rewiring
|
| 117K | PK[R/K]RRSVSSQRSRSRS | 5 |
network-rewiring
|
| 120L | PKRRS[V/L]VSSQRSRSRS | 2 |
proximal
|
| 124S | PKRRSVSSQ[R/S]RSRSRS | 2 |
network-rewiring
|
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