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Mutation:
MDM2 S246L
Summary
Isoform:
Position:
246
Ref:
S
Mutation:
L
PTM impact:
direct
PTM affected:
3
Kinases:
CSNK1D
Clinical Information
Cancer types: (TCGA MC3)
BLCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 246S
Affected site:
Position: 246
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 246L | GDWLDQD[S/L]SVSDQFSV | 0 |
direct
|
PTM Site: 248S
Affected site:
Position: 248
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 246L | WLDQD[S/L]SVSDQFSVEF | 2 |
proximal
|
PTM Site: 252S
Affected site:
Position: 252
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 246L | D[S/L]SVSDQFSVEFEVES | 6 |
distal
|
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