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Mutation:
RUNX1 R180Q
Summary
Isoform:
Position:
180
Ref:
R
Mutation:
Q
PTM impact:
proximal
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Familial platelet disorder with associated myeloid malignancy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 182K
Affected site:
Position: 182
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 188N | EPRRHRQKLDDQT[K/N]KP | 6 |
distal
|
| 187I | EPRRHRQKLDDQ[T/I]TKP | 5 |
distal
|
| 181L | EPRRHR[Q/L]QKLDDQTKP | 1 |
proximal
|
| 180Q | EPRRH[R/Q]RQKLDDQTKP | 2 |
proximal
|
| 177Q | EP[R/Q]RRHRQKLDDQTKP | 5 |
distal
|
| 186E | EPRRHRQKLDD[Q/E]QTKP | 4 |
distal
|
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