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Gene | PTEN |
Variant | M134T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN M134T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M134T rescues growth of yeast cells similar to wild-type Pten in culture, but demonstrates reduced lipid phosphatase activity in a yeast assay (PMID: 21828076) and cell culture (PMID: 32150788), and decreased Pten protein expression and stability in cell culture (PMID: 32150788, PMID: 32350270), and results in reduced nuclear localization and increased sumoylation (PMID: 32150788), failure to suppress Akt phosphorylation in cell culture, and impaired developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M134T |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933160T>C |
cDNA | c.401T>C |
Protein | p.M134T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933160T>C | c.401T>C | p.M134T | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933160T>C | c.401T>C | p.M134T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN M134T | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |