Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | PTEN |
| Variant | F90S |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN F90S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F90S demonstrates phosphatase activity comparable to wild-type Pten however, F90S results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids (PMID: 25448479, PMID: 25263454) and subsequently, is unable to prevent Akt signaling, cell proliferation, and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN F90S |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933028T>C |
| cDNA | c.269T>C |
| Protein | p.F90S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933028T>C | c.269T>C | p.F90S | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933028T>C | c.269T>C | p.F90S | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933028T>C | c.269T>C | p.F90S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|