You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
RUNX1 Q181L
Summary
Isoform:
Position:
181
Ref:
Q
Mutation:
L
PTM impact:
proximal
PTM affected:
2
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
|
PTM Site: 188K
Affected site:
Position: 188
Residue: K
Type: acetylation, ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 194C | QKLDDQTKPGSLS[F/C]FS | 6 |
distal
|
| 192F | QKLDDQTKPGS[L/F]LSFS | 4 |
distal
|
| 190A | QKLDDQTKP[G/A]GSLSFS | 2 |
proximal
|
| 190R | QKLDDQTKP[G/R]GSLSFS | 2 |
proximal
|
| 189L | QKLDDQTK[P/L]PGSLSFS | 1 |
proximal
|
| 188N | QKLDDQT[K/N]KPGSLSFS | 0 |
direct
|
| 187I | QKLDDQ[T/I]TKPGSLSFS | 1 |
proximal
|
| 193Y | QKLDDQTKPGSL[S/Y]SFS | 5 |
distal
|
| 186E | QKLDD[Q/E]QTKPGSLSFS | 2 |
proximal
|
| 189H | QKLDDQTK[P/H]PGSLSFS | 1 |
proximal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us