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Gene | PTEN |
Variant | T383A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN T383A does not lie within any known functional domains of the Pten protein (UniProt.org). The functional effect of T383A is conflicting, as it results in nuclear localization similar to wild-type Pten (PMID: 25823029), however, leads to increased nuclear localization (PMID: 16807353), and retains the ability to undergo phosphorylation by Topk (PMID: 24012691) and the ability to respond to PIP2, but demonstrates reduced lipid phosphatase activity, impaired membrane localization (PMID: 17565999), reduced protein stability, increased cell cycle arrest and FKHR transcriptional activation (PMID: 10866658, PMID: 11035045), and increased ubiquitination in culture (PMID: 11431330), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T383A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965407A>G |
cDNA | c.1147A>G |
Protein | p.T383A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87952253A>G | c.1147A>G | p.T383A | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965407A>G | c.1147A>G | p.T383A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965407A>G | c.1147A>G | p.T383A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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