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| Gene | PTEN |
| Variant | D331G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN D331G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D331G results in reduced protein stability and decreased phosphatase activity (PMID: 10866302), but demonstrates growth inhibition similar to wild-type Pten in cell culture (PMID: 11156408), and maintains suppression of E2f1-mediated transcripts (PMID: 29108454), and therefore, its effect on Pten protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN D331G |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87961084A>G |
| cDNA | c.992A>G |
| Protein | p.D331G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314 | chr10:g.87961084A>G | c.992A>G | p.D331G | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87961084A>G | c.992A>G | p.D331G | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87961084A>G | c.992A>G | p.D331G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN D331G | unknown |