Annotation Detail
Information
- Associated Genes
- PRPS1
- Associated Variants
-
PRPS1 D139G
PRPS1 D139G - Associated Disease
- childhood B-cell acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- Lentiviral-mediated overexpression of PRPS1 D139G in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposure to mercaptopurine or thioguanine. Based on the crystal structure of PRPS1, D139G is not in or near the allosteric site or dimer interface, which likely impedes the ability of the variant to impact thiopurine processing.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7915
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4566
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2935
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Childhood B-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Mercaptopurine,Thioguanine
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25962120
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Mercaptopurine | Resitance or Non-Reponse | false |
| Thioguanine | Resitance or Non-Reponse | false |