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Mutation:
RUNX1 R223C
Summary
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
Impact:
distalOther 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:
directOther 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
Best loss of PTM site:
PRKACA (probability p=0.961)
Site: 225S (phosphorylation)
Position in motif: -2
There are 3 other predicted
losses:
- AURKB (p=0.886)
- ROCK1 (p=0.883)
- AURKA (p=0.861)
Other 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
|
PTM Site: 229S
Affected site:
Position: 229
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 233K | PRASLNHSTAF[N/K]NPQP | 4 |
distal
|
| 233S | PRASLNHSTAF[N/S]NPQP | 4 |
distal
|
| 230I | PRASLNHS[T/I]TAFNPQP | 1 |
proximal
|
| 228R | PRASLN[H/R]HSTAFNPQP | 1 |
proximal
|
| 228N | PRASLN[H/N]HSTAFNPQP | 1 |
proximal
|
| 223H | P[R/H]RASLNHSTAFNPQP | 6 |
distal
|
| 223C | P[R/C]RASLNHSTAFNPQP | 6 |
distal
|
| 229F | PRASLNH[S/F]STAFNPQP | 0 |
direct
|
| 235E | PRASLNHSTAFNP[Q/E]QP | 6 |
distal
|
PTM Site: 230T
Affected site:
Position: 230
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 236S | RASLNHSTAFNPQ[P/S]PQ | 6 |
distal
|
| 233K | RASLNHSTAF[N/K]NPQPQ | 3 |
distal
|
| 233S | RASLNHSTAF[N/S]NPQPQ | 3 |
distal
|
| 230I | RASLNHS[T/I]TAFNPQPQ | 0 |
direct
|
| 228R | RASLN[H/R]HSTAFNPQPQ | 2 |
network-rewiring
|
| 228N | RASLN[H/N]HSTAFNPQPQ | 2 |
proximal
|
| 229F | RASLNH[S/F]STAFNPQPQ | 1 |
proximal
|
| 235E | RASLNHSTAFNP[Q/E]QPQ | 5 |
distal
|
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