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Gene | PTEN |
Variant | H93R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN H93R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H93R results in phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076), however, results in reduced catalytic activity (PMID: 25647146, PMID: 20718038), decreased suppression of TH (PMID: 26579216), enhanced membrane association and increased binding affinity to phosphatidylserine (PMID: 22505997, PMID: 20718038), and demonstrates reduced ability to dephosphorylate PIP3 in culture and is not able to rescue neuronal hypertrophy and pS6 signaling in PTEN-null animal models (PMID: 29373119), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN H93R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933037A>G |
cDNA | c.278A>G |
Protein | p.H93R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717 | chr10:g.87864228A>G | c.278A>G | p.H93R | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864228A>G | c.278A>G | p.H93R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933037A>G | c.278A>G | p.H93R | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933037A>G | c.278A>G | p.H93R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933037A>G | c.278A>G | p.H93R | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864228A>G | c.278A>G | p.H93R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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