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Gene | PTEN |
Variant | I135R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN I135R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I135R results in reduced phosphatase activity in a yeast assay (PMID: 29706350) and cell culture (PMID: 32150788), decreased Pten protein expression and stability, reduced ability to suppress Akt phosphorylation, and results in reduced nuclear localization and increased ubiquitination and sumoylation in culture (PMID: 32150788). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN I135R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933163T>G |
cDNA | c.404T>G |
Protein | p.I135R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933163T>G | c.404T>G | p.I135R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933163T>G | c.404T>G | p.I135R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN I135R | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |