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Mutation:
BCLAF1 R130H
Summary
Isoform:
Position:
130
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
5
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
GBM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 125S
Affected site:
Position: 125
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 131Q | RSVSSQRSRSRSR[R/Q]RS | 6 |
distal
|
| 131W | RSVSSQRSRSRSR[R/W]RS | 6 |
distal
|
| 130H | RSVSSQRSRSRS[R/H]RRS | 5 |
distal
|
| 128K | RSVSSQRSRS[R/K]RSRRS | 3 |
distal
|
| 131P | RSVSSQRSRSRSR[R/P]RS | 6 |
distal
|
| 128I | RSVSSQRSRS[R/I]RSRRS | 3 |
distal
|
| 120F | RS[V/F]VSSQRSRSRSRRS | 5 |
distal
|
| 129A | RSVSSQRSRSR[S/A]SRRS | 4 |
distal
|
| 125F | RSVSSQR[S/F]SRSRSRRS | 0 |
direct
|
| 120L | RS[V/L]VSSQRSRSRSRRS | 5 |
distal
|
| 124S | RSVSSQ[R/S]RSRSRSRRS | 1 |
proximal
|
PTM Site: 132S
Affected site:
Position: 132
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.965)
Site: 132S (phosphorylation)
Position in motif: -2
There are 2 other predicted
losses:
- AKT1 (p=0.949)
- AURKB (p=0.928)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 134I | SRSRSRRSY[R/I]RSSRSP | 2 |
proximal
|
| 131Q | SRSRSR[R/Q]RSYRSSRSP | 1 |
proximal
|
| 131W | SRSRSR[R/W]RSYRSSRSP | 1 |
proximal
|
| 130H | SRSRS[R/H]RRSYRSSRSP | 2 |
network-rewiring
|
| 137K | SRSRSRRSYRSS[R/K]RSP | 5 |
distal
|
| 128K | SRS[R/K]RSRRSYRSSRSP | 4 |
distal
|
| 131P | SRSRSR[R/P]RSYRSSRSP | 1 |
proximal
|
| 128I | SRS[R/I]RSRRSYRSSRSP | 4 |
distal
|
| 129A | SRSR[S/A]SRRSYRSSRSP | 3 |
network-rewiring
|
| 137M | SRSRSRRSYRSS[R/M]RSP | 5 |
distal
|
PTM Site: 133Y
Affected site:
Position: 133
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 134I | RSRSRRSY[R/I]RSSRSPR | 1 |
proximal
|
| 131Q | RSRSR[R/Q]RSYRSSRSPR | 2 |
proximal
|
| 131W | RSRSR[R/W]RSYRSSRSPR | 2 |
proximal
|
| 130H | RSRS[R/H]RRSYRSSRSPR | 3 |
distal
|
| 137K | RSRSRRSYRSS[R/K]RSPR | 4 |
distal
|
| 128K | RS[R/K]RSRRSYRSSRSPR | 5 |
distal
|
| 131P | RSRSR[R/P]RSYRSSRSPR | 2 |
proximal
|
| 128I | RS[R/I]RSRRSYRSSRSPR | 5 |
distal
|
| 129A | RSR[S/A]SRRSYRSSRSPR | 4 |
distal
|
| 137M | RSRSRRSYRSS[R/M]RSPR | 4 |
distal
|
PTM Site: 135S
Affected site:
Position: 135
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKACA (probability p=0.965)
Site: 132S (phosphorylation)
Position in motif: -2
There are 2 other predicted
losses:
- AKT1 (p=0.949)
- AURKB (p=0.928)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 134I | RSRRSY[R/I]RSSRSPRSS | 1 |
proximal
|
| 131Q | RSR[R/Q]RSYRSSRSPRSS | 4 |
distal
|
| 131W | RSR[R/W]RSYRSSRSPRSS | 4 |
distal
|
| 130H | RS[R/H]RRSYRSSRSPRSS | 5 |
network-rewiring
|
| 137K | RSRRSYRSS[R/K]RSPRSS | 2 |
proximal
|
| 131P | RSR[R/P]RSYRSSRSPRSS | 4 |
distal
|
| 141L | RSRRSYRSSRSPR[S/L]SS | 6 |
distal
|
| 129A | R[S/A]SRRSYRSSRSPRSS | 6 |
distal
|
| 137M | RSRRSYRSS[R/M]RSPRSS | 2 |
network-rewiring
|
PTM Site: 136S
Affected site:
Position: 136
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 134I | SRRSY[R/I]RSSRSPRSSS | 2 |
network-rewiring
|
| 131Q | SR[R/Q]RSYRSSRSPRSSS | 5 |
network-rewiring
|
| 131W | SR[R/W]RSYRSSRSPRSSS | 5 |
network-rewiring
|
| 130H | S[R/H]RRSYRSSRSPRSSS | 6 |
distal
|
| 137K | SRRSYRSS[R/K]RSPRSSS | 1 |
proximal
|
| 131P | SR[R/P]RSYRSSRSPRSSS | 5 |
network-rewiring
|
| 141L | SRRSYRSSRSPR[S/L]SSS | 5 |
distal
|
| 137M | SRRSYRSS[R/M]RSPRSSS | 1 |
proximal
|
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