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| Gene | PTEN |
| Variant | T131I |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN T131I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T131I demonstrates protein stability similar to wild-type protein (PMID: 32366478, PMID: 32350270), however, confers a loss of function to Pten as demonstrated by a partial loss of the ability to rescue spheroid formation in cell culture (PMID: 32366478), loss of phosphatase activity in yeast (PMID: 21828076, PMID: 32350270), and impaired developmental growth in flies (PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN T131I |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933151C>T |
| cDNA | c.392C>T |
| Protein | p.T131I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933151C>T | c.392C>T | p.T131I | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933151C>T | c.392C>T | p.T131I | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933151C>T | c.392C>T | p.T131I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN T131I | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |