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Mutation:
RUNX1 A217T
Summary
Isoform:
Position:
217
Ref:
A
Mutation:
T
PTM impact:
proximal
PTM affected:
4
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: 210R
Affected site:
Position: 210
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 213A | QLRRTAMRVS[P/A]PHHPA | 3 |
distal
|
| 211I | QLRRTAMR[V/I]VSPHHPA | 1 |
proximal
|
| 209I | QLRRTA[M/I]MRVSPHHPA | 1 |
proximal
|
| 206H | QLR[R/H]RTAMRVSPHHPA | 4 |
distal
|
| 206C | QLR[R/C]RTAMRVSPHHPA | 4 |
distal
|
| 205Q | QL[R/Q]RRTAMRVSPHHPA | 5 |
distal
|
| 204P | Q[L/P]LRRTAMRVSPHHPA | 6 |
distal
|
| 209V | QLRRTA[M/V]MRVSPHHPA | 1 |
proximal
|
| 205L | QL[R/L]RRTAMRVSPHHPA | 5 |
distal
|
PTM Site: 212S
Affected site:
Position: 212
Residue: S
Type: phosphorylation, phosphorylation (SARS-CoV-2)
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 218S | RRTAMRVSPHHPA[P/S]PT | 6 |
distal
|
| 217T | RRTAMRVSPHHP[A/T]APT | 5 |
distal
|
| 213A | RRTAMRVS[P/A]PHHPAPT | 1 |
network-rewiring
|
| 211I | RRTAMR[V/I]VSPHHPAPT | 1 |
proximal
|
| 209I | RRTA[M/I]MRVSPHHPAPT | 3 |
distal
|
| 206H | R[R/H]RTAMRVSPHHPAPT | 6 |
distal
|
| 206C | R[R/C]RTAMRVSPHHPAPT | 6 |
distal
|
| 209V | RRTA[M/V]MRVSPHHPAPT | 3 |
distal
|
PTM Site: 219T
Affected site:
Position: 219
Residue: T
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 223H | SPHHPAPTPNP[R/H]RASL | 4 |
distal
|
| 223C | SPHHPAPTPNP[R/C]RASL | 4 |
distal
|
| 221T | SPHHPAPTP[N/T]NPRASL | 2 |
proximal
|
| 220S | SPHHPAPT[P/S]PNPRASL | 1 |
network-rewiring
|
| 219M | SPHHPAP[T/M]TPNPRASL | 0 |
direct
|
| 219A | SPHHPAP[T/A]TPNPRASL | 0 |
direct
|
| 218S | SPHHPA[P/S]PTPNPRASL | 1 |
proximal
|
| 217T | SPHHP[A/T]APTPNPRASL | 2 |
proximal
|
| 213A | S[P/A]PHHPAPTPNPRASL | 6 |
distal
|
PTM Site: 223R
Affected site:
Position: 223
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 228R | PAPTPNPRASLN[H/R]HST | 5 |
distal
|
| 228N | PAPTPNPRASLN[H/N]HST | 5 |
distal
|
| 223H | PAPTPNP[R/H]RASLNHST | 0 |
direct
|
| 223C | PAPTPNP[R/C]RASLNHST | 0 |
direct
|
| 221T | PAPTP[N/T]NPRASLNHST | 2 |
proximal
|
| 220S | PAPT[P/S]PNPRASLNHST | 3 |
distal
|
| 219M | PAP[T/M]TPNPRASLNHST | 4 |
distal
|
| 219A | PAP[T/A]TPNPRASLNHST | 4 |
distal
|
| 218S | PA[P/S]PTPNPRASLNHST | 5 |
distal
|
| 217T | P[A/T]APTPNPRASLNHST | 6 |
distal
|
| 229F | PAPTPNPRASLNH[S/F]ST | 6 |
distal
|
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