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Mutation:
RUNX1 S8R
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: 14T
Affected site:
Position: 14
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 20Q | ASTSRRFTPPSTA[L/Q]LS | 6 |
distal
|
| 16S | ASTSRRFTP[P/S]PSTALS | 2 |
proximal
|
| 14M | ASTSRRF[T/M]TPPSTALS | 0 |
direct
|
| 12C | ASTSR[R/C]RFTPPSTALS | 2 |
network-rewiring
|
| 8R | A[S/R]STSRRFTPPSTALS | 6 |
distal
|
| 8N | A[S/N]STSRRFTPPSTALS | 6 |
distal
|
| 10I | AST[S/I]SRRFTPPSTALS | 4 |
distal
|
External references
dbSNP:
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