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Mutation:
RUNX1 R12C
Summary
Isoform:
Position:
12
Ref:
R
Mutation:
C
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
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
Best loss of PTM site:
AURKA (probability p=0.995)
Site: 14T (phosphorylation)
Position in motif: -2
There is 1 other predicted
loss:
- AKT1 (p=0.888)
Other 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
Best loss of PTM site:
AURKA (probability p=0.995)
Site: 14T (phosphorylation)
Position in motif: -2
There is 1 other predicted
loss:
- AKT1 (p=0.888)
Other 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:
distalOther 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
|
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