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| Gene | PTEN |
| Variant | M134I |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN M134I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M134I demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), however, results in a loss of ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and leads to delayed developmental growth in flies (PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M134I |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933161G>C |
| cDNA | c.402G>C |
| Protein | p.M134I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314 | chr10:g.87933161G>C | c.402G>C | p.M134I | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87933161G>C | c.402G>C | p.M134I | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933161G>C | c.402G>C | p.M134I | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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