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Mutation:
RUNX1 N233S
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: 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
|
External references
dbSNP:
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