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@jax.org
Gene | PTEN |
Variant | T131fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T131fs results in a change in the amino acid sequence of the Pten protein beginning at aa 131 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T131fs has not been characterized, however, due to the effects of other truncation mutations downstream of T131 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN T131fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87933149_87933150) |
cDNA | c.(391_390) |
Protein | p.T131fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933150delA | c.391delA | p.T131fs*3 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87933149_87933150) | c.(391_390) | p.T131fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87933149_87933150) | c.(391_390) | p.T131fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|