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Mutation:
BLM R15H
Summary
Isoform:
Position:
15
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
1
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:
ROCK1 (probability p=0.877)
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
|
External references
dbSNP:
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