You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BLM R15C
Summary
Isoform:
Position:
15
Ref:
R
Mutation:
C
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
BRCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
[0.0154]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 17S
Affected site:
Position: 17
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKCD (probability p=0.923)
Site: 17S (phosphorylation)
Position in motif: -2
There is 1 other predicted
loss:
- ROCK1 (p=0.876)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 15C | QEQLE[R/C]RHSARTLNNK | 2 |
network-rewiring
|
| 15H | QEQLE[R/H]RHSARTLNNK | 2 |
network-rewiring
|
| 16D | QEQLER[H/D]HSARTLNNK | 1 |
proximal
|
| 19S | QEQLERHSA[R/S]RTLNNK | 2 |
network-rewiring
|
| 21V | QEQLERHSART[L/V]LNNK | 4 |
distal
|
| 22D | QEQLERHSARTL[N/D]NNK | 5 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us