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Mutation:
BLM R19S
Summary
Isoform:
Position:
19
Ref:
R
Mutation:
S
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bloom syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 17S
Affected site:
Position: 17
Residue: S
Type: phosphorylation
Only loss of PTM site:
PRKCB (probability p=0.934)
Site: 17S (phosphorylation)
Position in motif: 2
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
|
PTM Site: 24K
Affected site:
Position: 24
Residue: K
Type: ubiquitination, sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 19S | SA[R/S]RTLNNKLSLSKPK | 5 |
distal
|
| 21V | SART[L/V]LNNKLSLSKPK | 3 |
distal
|
| 22D | SARTL[N/D]NNKLSLSKPK | 2 |
proximal
|
| 30L | SARTLNNKLSLSK[P/L]PK | 6 |
distal
|
PTM Site: 26S
Affected site:
Position: 26
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 21V | RT[L/V]LNNKLSLSKPKFS | 5 |
distal
|
| 22D | RTL[N/D]NNKLSLSKPKFS | 4 |
distal
|
| 30L | RTLNNKLSLSK[P/L]PKFS | 4 |
distal
|
External references
dbSNP:
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