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Mutation:
SAP30BP R144W
Summary
Isoform:
Position:
144
Ref:
R
Mutation:
W
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
LGG
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: 138S
Affected site:
Position: 138
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 144W | DPQELVASFSERV[R/W]RN | 6 |
distal
|
| 143A | DPQELVASFSER[V/A]VRN | 5 |
distal
|
PTM Site: 140S
Affected site:
Position: 140
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 144W | QELVASFSERV[R/W]RNMS | 4 |
distal
|
| 143A | QELVASFSER[V/A]VRNMS | 3 |
distal
|
PTM Site: 147S
Affected site:
Position: 147
Residue: S
Type: phosphorylation
Best loss of PTM site:
RPS6KA1 (probability p=1.0)
Site: 147S (phosphorylation)
Position in motif: -3
There are 7 other predicted
losses:
- AKT2 (p=0.988)
- PRKACA (p=0.962)
- PAK1 (p=0.929)
- RPS6KB1 (p=0.925)
- SGK1 (p=0.875)
- PRKAA1 (p=0.866)
- PRKD1 (p=0.864)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 147L | SERVRNM[S/L]SPDEIKIP | 0 |
direct
|
| 151V | SERVRNMSPDE[I/V]IKIP | 4 |
distal
|
| 144W | SERV[R/W]RNMSPDEIKIP | 3 |
network-rewiring
|
| 150K | SERVRNMSPD[E/K]EIKIP | 3 |
network-rewiring
|
| 143A | SER[V/A]VRNMSPDEIKIP | 4 |
distal
|
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