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Gene | PTEN |
Variant | G129E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G129E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129E demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), retains protein phosphatase activity (PMID: 9256433, PMID: 9811831), however, demonstrates loss of lipid phosphatase activity in in vitro assays (PMID: 9811831), loss of ability to rescue spheroid formation (PMID: 32366478), fails to suppress Akt phosphorylation in cell culture, and delays development in flies (PMID: 32350270), and is unable to inhibit cell survival and proliferation in culture (PMID: 9811831, PMID: 9823298). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G129E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933145G>A |
cDNA | c.386G>A |
Protein | p.G129E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933145G>A | c.386G>A | p.G129E | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933145G>A | c.386G>A | p.G129E | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933145G>A | c.386G>A | p.G129E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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