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Mutation:
TP53 Y46H
Summary
Isoform:
Position:
46
Ref:
Y
Mutation:
H
PTM impact:
distal
PTM affected:
2
Kinases:
AURKB
Clinical Information
Cancer types: (TCGA MC3)
LUAD, LGG, STAD
Cancer types: (PCAWG)
Panc-AdenoCA
Disease Annotations: (ClinVar)
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 50R
Affected site:
Position: 50
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 50K | RVEYLDD[R/K]RNTFRHSV | 0 |
direct
|
| 50G | RVEYLDD[R/G]RNTFRHSV | 0 |
direct
|
| 51Y | RVEYLDDR[N/Y]NTFRHSV | 1 |
proximal
|
| 49G | RVEYLD[D/G]DRNTFRHSV | 1 |
proximal
|
| 49H | RVEYLD[D/H]DRNTFRHSV | 1 |
proximal
|
PTM Site: 52T
Affected site:
Position: 52
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 52A | EYLDDRN[T/A]TFRHSVVV | 0 |
direct
|
| 52P | EYLDDRN[T/P]TFRHSVVV | 0 |
direct
|
| 52I | EYLDDRN[T/I]TFRHSVVV | 0 |
direct
|
| 53I | EYLDDRNT[F/I]FRHSVVV | 1 |
proximal
|
| 51Y | EYLDDR[N/Y]NTFRHSVVV | 1 |
proximal
|
External references
dbSNP:
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