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Mutation:
BCLAF1 R137K
Summary
Isoform:
Position:
137
Ref:
R
Mutation:
K
PTM impact:
proximal
PTM affected:
6
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 132S
Affected site:
Position: 132
Residue: S
Type: phosphorylation
Impact:
distalOther 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
Impact:
proximalOther 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:
proximalOther 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
|
PTM Site: 138S
Affected site:
Position: 138
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 134I | RSY[R/I]RSSRSPRSSSSR | 4 |
distal
|
| 137K | RSYRSS[R/K]RSPRSSSSR | 1 |
proximal
|
| 141L | RSYRSSRSPR[S/L]SSSSR | 3 |
distal
|
| 137M | RSYRSS[R/M]RSPRSSSSR | 1 |
proximal
|
| 144A | RSYRSSRSPRSSS[S/A]SR | 6 |
distal
|
PTM Site: 141S
Affected site:
Position: 141
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 145H | RSSRSPRSSSS[R/H]RSSS | 4 |
distal
|
| 145C | RSSRSPRSSSS[R/C]RSSS | 4 |
distal
|
| 147L | RSSRSPRSSSSRS[S/L]SS | 6 |
distal
|
| 137K | RSS[R/K]RSPRSSSSRSSS | 4 |
distal
|
| 141L | RSSRSPR[S/L]SSSSRSSS | 0 |
direct
|
| 137M | RSS[R/M]RSPRSSSSRSSS | 4 |
distal
|
| 144A | RSSRSPRSSS[S/A]SRSSS | 3 |
distal
|
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