PTEN R130* - Gene Variant Detail

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Gene PTEN
Variant R130*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PTEN R130* results in a premature truncation of the Pten protein at amino acid 130 of 403 within the phosphatase tensin-type domain (UniProt.org). R130* confers a loss of function to the Pten protein as demonstrated by loss of Pten expression in a patient sample (PMID: 32610572), demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture (PMID: 32350270), and results in decreased p53 signaling and increased DNA damage in xenografts (PMID: 24721394), and increased transformation ability compared to wild-type Pten in two different cell lines in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R130*

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Transcript NM_000314.8
gDNA chr10:g.87933147C>T
cDNA c.388C>T
Protein p.R130*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933147C>T c.388C>T p.R130* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933147C>T c.388C>T p.R130* RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933147C>T c.388C>T p.R130* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN R130* follicular thyroid carcinoma sensitive MK2206 Preclinical - Cell culture Actionable In a preclinical study, MK2206 inhibited AKT activation, proliferation, and growth of thyroid cancer cell lines with PI3K/AKT pathway alterations in culture, including an follicular thyroid cancer cell line harboring PTEN R130* and loss of one PTEN allele (PMID: 21289267). 21289267
PTEN R130* Her2-receptor negative breast cancer predicted - resistant Alpelisib + Letrozole Case Reports/Case Series Actionable In a Phase I/II trial, combination of Piqray (Alpelisib) and Femara (letrozole) resulted in no clinical benefit in a patient with hormone receptor positive, ERBB2 (HER2)-negative breast cancer harboring PTEN R130* (PMID: 32864625; NCT01870505). 32864625