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Mutation:
MDM2 Q288H
Summary
Isoform:
Position:
288
Ref:
Q
Mutation:
H
PTM impact:
proximal
PTM affected:
5
Kinases:
ABL1,
CSNK1D,
SRC
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0084]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 282Y
Affected site:
Position: 282
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 281L | SDEDDE[V/L]VYQVTVYQA | 1 |
proximal
|
| 288H | SDEDDEVYQVTVY[Q/H]QA | 6 |
distal
|
| 285P | SDEDDEVYQV[T/P]TVYQA | 3 |
network-rewiring
|
| 282H | SDEDDEV[Y/H]YQVTVYQA | 0 |
direct
|
PTM Site: 285T
Affected site:
Position: 285
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 281L | DDE[V/L]VYQVTVYQAGES | 4 |
distal
|
| 288H | DDEVYQVTVY[Q/H]QAGES | 3 |
distal
|
| 285P | DDEVYQV[T/P]TVYQAGES | 0 |
direct
|
| 290W | DDEVYQVTVYQA[G/W]GES | 5 |
distal
|
| 282H | DDEV[Y/H]YQVTVYQAGES | 3 |
distal
|
PTM Site: 287Y
Affected site:
Position: 287
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 281L | E[V/L]VYQVTVYQAGESDT | 6 |
distal
|
| 288H | EVYQVTVY[Q/H]QAGESDT | 1 |
proximal
|
| 285P | EVYQV[T/P]TVYQAGESDT | 2 |
proximal
|
| 290W | EVYQVTVYQA[G/W]GESDT | 3 |
distal
|
| 282H | EV[Y/H]YQVTVYQAGESDT | 5 |
distal
|
PTM Site: 292S
Affected site:
Position: 292
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 288H | TVY[Q/H]QAGESDTDSFEE | 4 |
distal
|
| 298K | TVYQAGESDTDSF[E/K]EE | 6 |
distal
|
| 290W | TVYQA[G/W]GESDTDSFEE | 2 |
proximal
|
PTM Site: 294T
Affected site:
Position: 294
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 288H | Y[Q/H]QAGESDTDSFEEDP | 6 |
distal
|
| 298K | YQAGESDTDSF[E/K]EEDP | 4 |
distal
|
| 290W | YQA[G/W]GESDTDSFEEDP | 4 |
distal
|
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