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Mutation:
RUNX1 L20Q
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
|
PTM Site: 17S
Affected site:
Position: 17
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 22L | SRRFTPPSTALS[P/L]PGK | 5 |
distal
|
| 22T | SRRFTPPSTALS[P/T]PGK | 5 |
distal
|
| 20Q | SRRFTPPSTA[L/Q]LSPGK | 3 |
distal
|
| 16S | SRRFTP[P/S]PSTALSPGK | 1 |
proximal
|
| 14M | SRRF[T/M]TPPSTALSPGK | 3 |
distal
|
| 12C | SR[R/C]RFTPPSTALSPGK | 5 |
network-rewiring
|
PTM Site: 18T
Affected site:
Position: 18
Residue: T
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 22L | RRFTPPSTALS[P/L]PGKM | 4 |
distal
|
| 22T | RRFTPPSTALS[P/T]PGKM | 4 |
distal
|
| 20Q | RRFTPPSTA[L/Q]LSPGKM | 2 |
proximal
|
| 16S | RRFTP[P/S]PSTALSPGKM | 2 |
proximal
|
| 14M | RRF[T/M]TPPSTALSPGKM | 4 |
distal
|
| 12C | R[R/C]RFTPPSTALSPGKM | 6 |
distal
|
PTM Site: 21S
Affected site:
Position: 21
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 26G | TPPSTALSPGKM[S/G]SEA | 5 |
distal
|
| 25I | TPPSTALSPGK[M/I]MSEA | 4 |
distal
|
| 25K | TPPSTALSPGK[M/K]MSEA | 4 |
distal
|
| 22L | TPPSTALS[P/L]PGKMSEA | 1 |
network-rewiring
|
| 22T | TPPSTALS[P/T]PGKMSEA | 1 |
network-rewiring
|
| 20Q | TPPSTA[L/Q]LSPGKMSEA | 1 |
proximal
|
| 16S | TP[P/S]PSTALSPGKMSEA | 5 |
distal
|
PTM Site: 24K
Affected site:
Position: 24
Residue: K
Type: ubiquitination, acetylation
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
|
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