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Mutation:
RUNX1 G190R
Summary
Isoform:
Position:
190
Ref:
G
Mutation:
R
PTM impact:
network-rewiring
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
ESCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 188K
Affected site:
Position: 188
Residue: K
Type: acetylation, ubiquitination
Impact:
proximalOther 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
|
PTM Site: 193S
Affected site:
Position: 193
Residue: S
Type: phosphorylation
Best gain of PTM site:
CHEK1 (probability p=0.991)
Site: 193S (phosphorylation)
Position in motif: -3
There are 15 other predicted
gains:
- RPS6KA1 (p=0.971)
- AKT1 (p=0.961)
- PRKG1 (p=0.936)
- PRKACA (p=0.929)
- CAMK2A (p=0.928)
- PRKAA1 (p=0.91)
- CHEK2 (p=0.908)
- RPS6KB1 (p=0.897)
- PRKCD (p=0.883)
- CAMK1 (p=0.875)
- DAPK3 (p=0.873)
- PRKCE (p=0.862)
- PRKD1 (p=0.862)
- AKT2 (p=0.856)
- SGK1 (p=0.851)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 198R | QTKPGSLSFSER[L/R]LSE | 5 |
distal
|
| 197Q | QTKPGSLSFSE[R/Q]RLSE | 4 |
distal
|
| 196G | QTKPGSLSFS[E/G]ERLSE | 3 |
network-rewiring
|
| 196K | QTKPGSLSFS[E/K]ERLSE | 3 |
network-rewiring
|
| 194C | QTKPGSLS[F/C]FSERLSE | 1 |
proximal
|
| 192F | QTKPGS[L/F]LSFSERLSE | 1 |
proximal
|
| 190A | QTKP[G/A]GSLSFSERLSE | 3 |
distal
|
| 190R | QTKP[G/R]GSLSFSERLSE | 3 |
network-rewiring
|
| 189L | QTK[P/L]PGSLSFSERLSE | 4 |
distal
|
| 188N | QT[K/N]KPGSLSFSERLSE | 5 |
distal
|
| 187I | Q[T/I]TKPGSLSFSERLSE | 6 |
distal
|
| 193Y | QTKPGSL[S/Y]SFSERLSE | 0 |
direct
|
| 189H | QTK[P/H]PGSLSFSERLSE | 4 |
distal
|
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