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Mutation:
STXBP2 P570L
Summary
Isoform:
Position:
570
Ref:
P
Mutation:
L
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
CDK5
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
Panc-Endocrine
Disease Annotations: (ClinVar)
Hemophagocytic lymphohistiocytosis, familial, 5
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 569T
Affected site:
Position: 569
Residue: T
Type: phosphorylation
Best loss of PTM site:
MAPK1 (probability p=0.954)
Site: 569T (phosphorylation)
Position in motif: 1
There are 8 other predicted
losses:
- CDK1 (p=0.953)
- MAPK3 (p=0.949)
- GSK3B (p=0.937)
- MAPK8 (p=0.925)
- MAPK14 (p=0.923)
- CDK2 (p=0.92)
- CDK4 (p=0.916)
- MAPK9 (p=0.895)
Other known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 570L | IGSSHILT[P/L]PTRFLDD | 1 |
network-rewiring
|
| 572C | IGSSHILTPT[R/C]RFLDD | 3 |
distal
|
| 564F | IG[S/F]SSHILTPTRFLDD | 5 |
distal
|
| 564C | IG[S/C]SSHILTPTRFLDD | 5 |
distal
|
Showing 1 to 4 of 4 rows
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