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Mutation:
RUNX1 R205Q
Summary
Isoform:
Position:
205
Ref:
R
Mutation:
Q
PTM impact:
proximal
PTM affected:
5
Kinases:
PAK4
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)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 199S
Affected site:
Position: 199
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 205Q | LSFSERLSELEQL[R/Q]RR | 6 |
distal
|
| 204P | LSFSERLSELEQ[L/P]LRR | 5 |
distal
|
| 203R | LSFSERLSELE[Q/R]QLRR | 4 |
distal
|
| 202K | LSFSERLSEL[E/K]EQLRR | 3 |
network-rewiring
|
| 198R | LSFSER[L/R]LSELEQLRR | 1 |
proximal
|
| 197Q | LSFSE[R/Q]RLSELEQLRR | 2 |
network-rewiring
|
| 196G | LSFS[E/G]ERLSELEQLRR | 3 |
distal
|
| 196K | LSFS[E/K]ERLSELEQLRR | 3 |
network-rewiring
|
| 194C | LS[F/C]FSERLSELEQLRR | 5 |
distal
|
| 193Y | L[S/Y]SFSERLSELEQLRR | 6 |
distal
|
| 205L | LSFSERLSELEQL[R/L]RR | 6 |
distal
|
PTM Site: 206R
Affected site:
Position: 206
Residue: R
Type: methylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 211I | SELEQLRRTAMR[V/I]VSP | 5 |
distal
|
| 209I | SELEQLRRTA[M/I]MRVSP | 3 |
distal
|
| 206H | SELEQLR[R/H]RTAMRVSP | 0 |
direct
|
| 206C | SELEQLR[R/C]RTAMRVSP | 0 |
direct
|
| 205Q | SELEQL[R/Q]RRTAMRVSP | 1 |
proximal
|
| 204P | SELEQ[L/P]LRRTAMRVSP | 2 |
proximal
|
| 203R | SELE[Q/R]QLRRTAMRVSP | 3 |
distal
|
| 202K | SEL[E/K]EQLRRTAMRVSP | 4 |
distal
|
| 209V | SELEQLRRTA[M/V]MRVSP | 3 |
distal
|
| 205L | SELEQL[R/L]RRTAMRVSP | 1 |
proximal
|
PTM Site: 207T
Affected site:
Position: 207
Residue: T
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 213A | ELEQLRRTAMRVS[P/A]PH | 6 |
distal
|
| 211I | ELEQLRRTAMR[V/I]VSPH | 4 |
distal
|
| 209I | ELEQLRRTA[M/I]MRVSPH | 2 |
proximal
|
| 206H | ELEQLR[R/H]RTAMRVSPH | 1 |
proximal
|
| 206C | ELEQLR[R/C]RTAMRVSPH | 1 |
proximal
|
| 205Q | ELEQL[R/Q]RRTAMRVSPH | 2 |
proximal
|
| 204P | ELEQ[L/P]LRRTAMRVSPH | 3 |
distal
|
| 203R | ELE[Q/R]QLRRTAMRVSPH | 4 |
distal
|
| 202K | EL[E/K]EQLRRTAMRVSPH | 5 |
distal
|
| 209V | ELEQLRRTA[M/V]MRVSPH | 2 |
proximal
|
| 205L | ELEQL[R/L]RRTAMRVSPH | 2 |
proximal
|
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 (SARS-CoV-2), phosphorylation
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
|
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