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Mutation:
BCL2L12 R152Q
Summary
Isoform:
Position:
152
Ref:
R
Mutation:
Q
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
GSK3B
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0231]
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 155S
Affected site:
Position: 155
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.988)
Site: 155S (phosphorylation)
Position in motif: -3
There are 5 other predicted
losses:
- PAK1 (p=0.953)
- PRKACA (p=0.951)
- PRKCD (p=0.881)
- CAMK2A (p=0.871)
- PRKAA1 (p=0.87)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 151S | SES[P/S]PRPCSLPIRPCY | 4 |
distal
|
| 152Q | SESP[R/Q]RPCSLPIRPCY | 3 |
network-rewiring
|
| 159C | SESPRPCSLPI[R/C]RPCY | 4 |
distal
|
| 160L | SESPRPCSLPIR[P/L]PCY | 5 |
distal
|
| 155C | SESPRPC[S/C]SLPIRPCY | 0 |
direct
|
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