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Gene | PTEN |
Variant | R335L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN R335L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R335L results in decreased phosphatase activity in yeast (PMID: 21828076), and is predicted to have reduced interaction with lipids (PMID: 23442912), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R335L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961096G>T |
cDNA | c.1004G>T |
Protein | p.R335L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87961096G>T | c.1004G>T | p.R335L | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961096G>T | c.1004G>T | p.R335L | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961096G>T | c.1004G>T | p.R335L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN R335L | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |