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Gene PTEN
Variant S385A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN S385A does not lie within any known functional domains of the Pten protein (UniProt.org). The functional effect of S385A is conflicting as it demonstrates Pten protein stability, cell cycle arrest, and transcriptional activation of FKHR similar to wild-type Pten in culture (PMID: 10866658), however, demonstrates reduced phosphorylation and Pten protein stability (PMID: 11035045) and decreased ability to undergo phosphorylation by Ck2 in cell culture (PMID: 16107342), and demonstrates increased lipid phosphatase activity, but not enhanced catalytic activity via PIP2, and leads to increased nuclear and membrane localization in cell culture (PMID: 17565999, PMID: 16807353), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN S385A

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Transcript NM_000314.8
gDNA chr10:g.87965413T>G
cDNA c.1153T>G
Protein p.S385A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87965413T>G c.1153T>G p.S385A RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965413T>G c.1153T>G p.S385A RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References