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Mutation:
HNF4A S143G
Summary
Isoform:
Position:
143
Ref:
S
Mutation:
G
PTM impact:
direct
PTM affected:
7
Kinases:
MAPK3,
MAPK3,
MAPK3,
MAPK3,
MAPK3,
MAPK3
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Maturity onset diabetes mellitus in young
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 138S
Affected site:
Position: 138
Residue: S
Type: phosphorylation
Impact:
distalOther 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:
proximalOther 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:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 139I | RIS[T/I]TRRSSYEDSSLP | 4 |
distal
|
| 143G | RISTRRS[S/G]SYEDSSLP | 0 |
direct
|
PTM Site: 144Y
Affected site:
Position: 144
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 139I | IS[T/I]TRRSSYEDSSLPS | 5 |
distal
|
| 143G | ISTRRS[S/G]SYEDSSLPS | 1 |
proximal
|
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
|
External references
dbSNP:
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