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Mutation:
HNF4A R136Q
Summary
Isoform:
Position:
136
Ref:
R
Mutation:
Q
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
MAPK3,
MAPK3,
MAPK3,
MAPK3
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Global developmental delay
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 138S
Affected site:
Position: 138
Residue: S
Type: phosphorylation
Best loss of PTM site:
ROCK1 (probability p=0.891)
Site: 138S (phosphorylation)
Position in motif: -2
There is 1 other predicted
loss:
- AURKB (p=0.875)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 136W | QNERD[R/W]RISTRRSSYE | 2 |
network-rewiring
|
| 136Q | QNERD[R/Q]RISTRRSSYE | 2 |
network-rewiring
|
| 139I | QNERDRIS[T/I]TRRSSYE | 1 |
proximal
|
| 143G | QNERDRISTRRS[S/G]SYE | 5 |
distal
|
| 134W | QNE[R/W]RDRISTRRSSYE | 4 |
distal
|
PTM Site: 139T
Affected site:
Position: 139
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 136W | NERD[R/W]RISTRRSSYED | 3 |
distal
|
| 136Q | NERD[R/Q]RISTRRSSYED | 3 |
distal
|
| 139I | NERDRIS[T/I]TRRSSYED | 0 |
direct
|
| 143G | NERDRISTRRS[S/G]SYED | 4 |
distal
|
| 134W | NE[R/W]RDRISTRRSSYED | 5 |
distal
|
PTM Site: 142S
Affected site:
Position: 142
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 136W | D[R/W]RISTRRSSYEDSSL | 6 |
distal
|
| 136Q | D[R/Q]RISTRRSSYEDSSL | 6 |
distal
|
| 139I | DRIS[T/I]TRRSSYEDSSL | 3 |
distal
|
| 143G | DRISTRRS[S/G]SYEDSSL | 1 |
proximal
|
PTM Site: 143S
Affected site:
Position: 143
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 139I | RIS[T/I]TRRSSYEDSSLP | 4 |
distal
|
| 143G | RISTRRS[S/G]SYEDSSLP | 0 |
direct
|
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