Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | PTEN |
| Variant | D109N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN D109N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D109N retains Akt phosphorylation and results in mRNA expression similar to wild-type Pten but demonstrates reduced protein expression in a patient sample in the context of a G36R mutation (PMID: 36591942), but has not been individually characterized, and therefore, its effect on protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN D109N |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933084G>A |
| cDNA | c.325G>A |
| Protein | p.D109N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87933084G>A | c.325G>A | p.D109N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN D109N | unknown |