After several years of serving the research community, our ActiveDriverDB database will be retired on May 1st 2026. Please make sure to download any data you need and update your links or workflows before that date.
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Mutation:
PHKB S453C
Summary
Isoform:
Position:
453
Ref:
S
Mutation:
C
PTM impact:
proximal
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Glycogen storage disease IXb
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 455K
Affected site:
Position: 455
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 453C | ADELI[S/C]SPKDIDPVQR | 2 |
proximal
|
| 456H | ADELISPK[D/H]DIDPVQR | 1 |
proximal
|
| 449N | A[D/N]DELISPKDIDPVQR | 6 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
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