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Gene | PTEN |
Variant | Y336* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Y336* results in a premature truncation within the C2 tensin-type domain of the Pten protein at amino acid 336 of 403 (UniProt.org). Y336* inhibits Akt phosphorylation and associates with heterochromatin to similar levels of wild-type Pten, but fails to stabilize Hp1alpha protein and enhances Hp1alpha polyubiquitination, leading to satellite DNA overexpression, failure to suppress cell growth, arrest cycle cycle progression, or inhibit transformation in cultured cells (PMID: 25946202). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y336* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961100C>A |
cDNA | c.1008C>A |
Protein | p.Y336* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961100C>A | c.1008C>A | p.Y336* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961100C>A | c.1008C>A | p.Y336* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961100C>A | c.1008C>A | p.Y336* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN Y336* | breast cancer | sensitive | Talazoparib | Preclinical - Cell culture | Actionable | In a preclinical study, breast cancer cells expressing PTEN Y336* demonstrated increased sensitivity to Talzenna (talazoparib) compared to cells expressing wild-type Pten in culture (PMID: 25946202}. | 25946202 |