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Mutation:
HNF4A A154E
Summary
Isoform:
Position:
154
Ref:
A
Mutation:
E
PTM impact:
distal
PTM affected:
3
Kinases:
MAPK3,
MAPK3,
MAPK3
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 147S
Affected site:
Position: 147
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 143G | RRS[S/G]SYEDSSLPSINA | 4 |
distal
|
| 153D | RRSSYEDSSLPSI[N/D]NA | 6 |
distal
|
PTM Site: 148S
Affected site:
Position: 148
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 143G | RS[S/G]SYEDSSLPSINAL | 5 |
distal
|
| 154E | RSSYEDSSLPSIN[A/E]AL | 6 |
distal
|
| 154V | RSSYEDSSLPSIN[A/V]AL | 6 |
distal
|
| 153D | RSSYEDSSLPSI[N/D]NAL | 5 |
distal
|
PTM Site: 151S
Affected site:
Position: 151
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 154E | YEDSSLPSIN[A/E]ALLQA | 3 |
distal
|
| 154V | YEDSSLPSIN[A/V]ALLQA | 3 |
distal
|
| 153D | YEDSSLPSI[N/D]NALLQA | 2 |
proximal
|
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