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Mutation:
RUNX1 L29S
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)
[1.0589]
Minor Allele Frequency: (1000 Genomes)
[1.0383399999999998]
PTM Site: 24K
Affected site:
Position: 24
Residue: K
Type: acetylation, ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 30L | STALSPGKMSEAL[P/L]PL | 6 |
distal
|
| 30R | STALSPGKMSEAL[P/R]PL | 6 |
distal
|
| 29S | STALSPGKMSEA[L/S]LPL | 5 |
distal
|
| 28E | STALSPGKMSE[A/E]ALPL | 4 |
distal
|
| 26G | STALSPGKM[S/G]SEALPL | 2 |
proximal
|
| 25I | STALSPGK[M/I]MSEALPL | 1 |
proximal
|
| 25K | STALSPGK[M/K]MSEALPL | 1 |
proximal
|
| 22L | STALS[P/L]PGKMSEALPL | 2 |
proximal
|
| 22T | STALS[P/T]PGKMSEALPL | 2 |
proximal
|
| 20Q | STA[L/Q]LSPGKMSEALPL | 4 |
distal
|
External references
dbSNP:
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