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Gene | PTEN |
Variant | M198R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN M198R lies within the C2 tensin-type domain of the Pten protein (UniProt.org). M198R confers a loss of function to the Pten protein as it results in reduced phosphatase activity in a yeast assay (PMID: 29706350, PMID: 17942903) and fails to suppress Akt phosphorylation in culture (PMID: 17942903). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M198R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952218T>G |
cDNA | c.593T>G |
Protein | p.M198R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87952218T>G | c.593T>G | p.M198R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952218T>G | c.593T>G | p.M198R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN M198R | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |