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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 |
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