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Mutation:
RUNX1 P220S
Summary
Isoform:
Position:
220
Ref:
P
Mutation:
S
PTM impact:
network-rewiring
PTM affected:
3
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: 219T
Affected site:
Position: 219
Residue: T
Type: phosphorylation
Best loss of PTM site:
MAPK10 (probability p=0.993)
Site: 219T (phosphorylation)
Position in motif: 1
There are 12 other predicted
losses:
- MAPK9 (p=0.962)
- MAPK1 (p=0.957)
- MAPK3 (p=0.953)
- MAPK7 (p=0.95)
- MAPK14 (p=0.939)
- CDK5 (p=0.928)
- MAPK8 (p=0.925)
- GSK3B (p=0.921)
- CDK1 (p=0.918)
- HIPK2 (p=0.906)
- MTOR (p=0.873)
- CDK4 (p=0.854)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 223H | SPHHPAPTPNP[R/H]RASL | 4 |
distal
|
| 223C | SPHHPAPTPNP[R/C]RASL | 4 |
distal
|
| 221T | SPHHPAPTP[N/T]NPRASL | 2 |
proximal
|
| 220S | SPHHPAPT[P/S]PNPRASL | 1 |
network-rewiring
|
| 219M | SPHHPAP[T/M]TPNPRASL | 0 |
direct
|
| 219A | SPHHPAP[T/A]TPNPRASL | 0 |
direct
|
| 218S | SPHHPA[P/S]PTPNPRASL | 1 |
proximal
|
| 217T | SPHHP[A/T]APTPNPRASL | 2 |
proximal
|
| 213A | S[P/A]PHHPAPTPNPRASL | 6 |
distal
|
PTM Site: 223R
Affected site:
Position: 223
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 228R | PAPTPNPRASLN[H/R]HST | 5 |
distal
|
| 228N | PAPTPNPRASLN[H/N]HST | 5 |
distal
|
| 223H | PAPTPNP[R/H]RASLNHST | 0 |
direct
|
| 223C | PAPTPNP[R/C]RASLNHST | 0 |
direct
|
| 221T | PAPTP[N/T]NPRASLNHST | 2 |
proximal
|
| 220S | PAPT[P/S]PNPRASLNHST | 3 |
distal
|
| 219M | PAP[T/M]TPNPRASLNHST | 4 |
distal
|
| 219A | PAP[T/A]TPNPRASLNHST | 4 |
distal
|
| 218S | PA[P/S]PTPNPRASLNHST | 5 |
distal
|
| 217T | P[A/T]APTPNPRASLNHST | 6 |
distal
|
| 229F | PAPTPNPRASLNH[S/F]ST | 6 |
distal
|
PTM Site: 225S
Affected site:
Position: 225
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 230I | PTPNPRASLNHS[T/I]TAF | 5 |
distal
|
| 228R | PTPNPRASLN[H/R]HSTAF | 3 |
distal
|
| 228N | PTPNPRASLN[H/N]HSTAF | 3 |
distal
|
| 223H | PTPNP[R/H]RASLNHSTAF | 2 |
network-rewiring
|
| 223C | PTPNP[R/C]RASLNHSTAF | 2 |
network-rewiring
|
| 221T | PTP[N/T]NPRASLNHSTAF | 4 |
distal
|
| 220S | PT[P/S]PNPRASLNHSTAF | 5 |
distal
|
| 219M | P[T/M]TPNPRASLNHSTAF | 6 |
distal
|
| 219A | P[T/A]TPNPRASLNHSTAF | 6 |
distal
|
| 229F | PTPNPRASLNH[S/F]STAF | 4 |
distal
|
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