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Mutation:
RUNX1 R197Q
Summary
Isoform:
Position:
197
Ref:
R
Mutation:
Q
PTM impact:
network-rewiring
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: 193S
Affected site:
Position: 193
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
PTM Site: 199S
Affected site:
Position: 199
Residue: S
Type: phosphorylation
Best loss of PTM site:
AURKA (probability p=0.979)
Site: 199S (phosphorylation)
Position in motif: -2
There are 4 other predicted
losses:
- PRKG1 (p=0.937)
- PRKACA (p=0.925)
- AURKB (p=0.884)
- ROCK1 (p=0.881)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 205Q | LSFSERLSELEQL[R/Q]RR | 6 |
distal
|
| 204P | LSFSERLSELEQ[L/P]LRR | 5 |
distal
|
| 203R | LSFSERLSELE[Q/R]QLRR | 4 |
distal
|
| 202K | LSFSERLSEL[E/K]EQLRR | 3 |
network-rewiring
|
| 198R | LSFSER[L/R]LSELEQLRR | 1 |
proximal
|
| 197Q | LSFSE[R/Q]RLSELEQLRR | 2 |
network-rewiring
|
| 196G | LSFS[E/G]ERLSELEQLRR | 3 |
distal
|
| 196K | LSFS[E/K]ERLSELEQLRR | 3 |
network-rewiring
|
| 194C | LS[F/C]FSERLSELEQLRR | 5 |
distal
|
| 193Y | L[S/Y]SFSERLSELEQLRR | 6 |
distal
|
| 205L | LSFSERLSELEQL[R/L]RR | 6 |
distal
|
External references
dbSNP:
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