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Gene | PTEN |
Variant | S10N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN S10N lies within the lipid binding domain of the Pten protein (PMID: 25263454). S10N demonstrates phosphatase activity comparable to wild-type Pten (PMID: 10468583, PMID: 25263454), however, S10N results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids, 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, PMID: 17213812). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN S10N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864498G>A |
cDNA | c.29G>A |
Protein | p.S10N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87952245G>A | c.29G>A | p.S10N | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87952245G>A | c.29G>A | p.S10N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864498G>A | c.29G>A | p.S10N | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864498G>A | c.29G>A | p.S10N | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864498G>A | c.29G>A | p.S10N | RefSeq | GRCh38/hg38 |
NM_001304718 | chr10:g.87952245G>A | c.29G>A | p.S10N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN S10N | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |