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Mutation:
BCLAF1 R145C
Summary
Isoform:
Position:
145
Ref:
R
Mutation:
C
PTM impact:
network-rewiring
PTM affected:
7
Kinases:
SRC
Clinical Information
Cancer types: (TCGA MC3)
no data
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: 138S
Affected site:
Position: 138
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
PTM Site: 146S
Affected site:
Position: 146
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 145H | PRSSSS[R/H]RSSSPYSKS | 1 |
proximal
|
| 145C | PRSSSS[R/C]RSSSPYSKS | 1 |
proximal
|
| 149T | PRSSSSRSSS[P/T]PYSKS | 3 |
distal
|
| 147L | PRSSSSRS[S/L]SSPYSKS | 1 |
network-rewiring
|
| 148Y | PRSSSSRSS[S/Y]SPYSKS | 2 |
proximal
|
| 150H | PRSSSSRSSSP[Y/H]YSKS | 4 |
distal
|
| 141L | PR[S/L]SSSSRSSSPYSKS | 5 |
distal
|
| 152R | PRSSSSRSSSPYS[K/R]KS | 6 |
distal
|
| 144A | PRSSS[S/A]SRSSSPYSKS | 2 |
proximal
|
| 149L | PRSSSSRSSS[P/L]PYSKS | 3 |
distal
|
PTM Site: 148S
Affected site:
Position: 148
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.985)
Site: 148S (phosphorylation)
Position in motif: -3
There are 12 other predicted
losses:
- CHEK2 (p=0.971)
- CHEK1 (p=0.956)
- CAMK2A (p=0.922)
- PAK1 (p=0.919)
- PRKAA1 (p=0.904)
- RPS6KB1 (p=0.893)
- RPS6KA1 (p=0.889)
- CAMK4 (p=0.878)
- PRKACA (p=0.877)
- SGK1 (p=0.874)
- PRKG1 (p=0.863)
- PRKD1 (p=0.863)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 145H | SSSS[R/H]RSSSPYSKSPV | 3 |
network-rewiring
|
| 145C | SSSS[R/C]RSSSPYSKSPV | 3 |
network-rewiring
|
| 149T | SSSSRSSS[P/T]PYSKSPV | 1 |
network-rewiring
|
| 147L | SSSSRS[S/L]SSPYSKSPV | 1 |
proximal
|
| 148Y | SSSSRSS[S/Y]SPYSKSPV | 0 |
direct
|
| 150H | SSSSRSSSP[Y/H]YSKSPV | 2 |
proximal
|
| 152R | SSSSRSSSPYS[K/R]KSPV | 4 |
distal
|
| 144A | SSS[S/A]SRSSSPYSKSPV | 4 |
distal
|
| 149L | SSSSRSSS[P/L]PYSKSPV | 1 |
network-rewiring
|
PTM Site: 150Y
Affected site:
Position: 150
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 145H | SS[R/H]RSSSPYSKSPVSK | 5 |
distal
|
| 145C | SS[R/C]RSSSPYSKSPVSK | 5 |
distal
|
| 156F | SSRSSSPYSKSPV[S/F]SK | 6 |
distal
|
| 149T | SSRSSS[P/T]PYSKSPVSK | 1 |
proximal
|
| 147L | SSRS[S/L]SSPYSKSPVSK | 3 |
distal
|
| 148Y | SSRSS[S/Y]SPYSKSPVSK | 2 |
proximal
|
| 150H | SSRSSSP[Y/H]YSKSPVSK | 0 |
direct
|
| 152R | SSRSSSPYS[K/R]KSPVSK | 2 |
proximal
|
| 144A | S[S/A]SRSSSPYSKSPVSK | 6 |
distal
|
| 149L | SSRSSS[P/L]PYSKSPVSK | 1 |
proximal
|
PTM Site: 151S
Affected site:
Position: 151
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 145H | S[R/H]RSSSPYSKSPVSKR | 6 |
distal
|
| 145C | S[R/C]RSSSPYSKSPVSKR | 6 |
distal
|
| 156F | SRSSSPYSKSPV[S/F]SKR | 5 |
distal
|
| 149T | SRSSS[P/T]PYSKSPVSKR | 2 |
proximal
|
| 147L | SRS[S/L]SSPYSKSPVSKR | 4 |
distal
|
| 148Y | SRSS[S/Y]SPYSKSPVSKR | 3 |
network-rewiring
|
| 150H | SRSSSP[Y/H]YSKSPVSKR | 1 |
proximal
|
| 152R | SRSSSPYS[K/R]KSPVSKR | 1 |
proximal
|
| 149L | SRSSS[P/L]PYSKSPVSKR | 2 |
proximal
|
PTM Site: 152K
Affected site:
Position: 152
Residue: K
Type: acetylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 156F | RSSSPYSKSPV[S/F]SKRR | 4 |
distal
|
| 149T | RSSS[P/T]PYSKSPVSKRR | 3 |
distal
|
| 147L | RS[S/L]SSPYSKSPVSKRR | 5 |
distal
|
| 148Y | RSS[S/Y]SPYSKSPVSKRR | 4 |
distal
|
| 150H | RSSSP[Y/H]YSKSPVSKRR | 2 |
proximal
|
| 152R | RSSSPYS[K/R]KSPVSKRR | 0 |
direct
|
| 149L | RSSS[P/L]PYSKSPVSKRR | 3 |
distal
|
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