You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BLM P305R
Summary
Isoform:
Position:
305
Ref:
P
Mutation:
R
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 304S
Affected site:
Position: 304
Residue: S
Type: phosphorylation
Best loss of PTM site:
MAPK3 (probability p=0.99)
Site: 304S (phosphorylation)
Position in motif: 1
There are 10 other predicted
losses:
- MAPK1 (p=0.977)
- MAPK9 (p=0.956)
- MAPK8 (p=0.953)
- HIPK2 (p=0.922)
- CDK1 (p=0.916)
- MAPK14 (p=0.899)
- CDK4 (p=0.897)
- MAPK10 (p=0.886)
- GSK3B (p=0.878)
- CDK2 (p=0.866)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 298M | D[T/M]TDFVPPSPEEIISA | 6 |
distal
|
| 305R | DTDFVPPS[P/R]PEEIISA | 1 |
network-rewiring
|
| 308V | DTDFVPPSPEE[I/V]IISA | 4 |
distal
|
| 309T | DTDFVPPSPEEI[I/T]ISA | 5 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us