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Gene | PTEN |
Variant | M199del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN M199del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 199 (UniProt.org). M199del confers a loss of Pten protein function as demonstrated by loss of phosphatase activity in an in vitro assay and in a yeast assay (PMID: 29706350, PMID: 11051241). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M199del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952220_87952222delATG |
cDNA | c.595_597delATG |
Protein | p.M199delM |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87965448_87965450delGCA | c.597_599delGCA | p.Q199delQ | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87952220_87952222delATG | c.595_597delATG | p.M199delM | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864545_87864547delACC | c.595_597delACC | p.T199delT | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864545_87864547delACC | c.595_597delACC | p.T199delT | RefSeq | GRCh38/hg38 |
NM_001304718 | chr10:g.87965448_87965450delGCA | c.597_599delGCA | p.Q199delQ | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952220_87952222delATG | c.595_597delATG | p.M199delM | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952220_87952222delATG | c.595_597delATG | p.M199delM | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87965448_87965450delGCA | c.597_599delGCA | p.Q199delQ | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864545_87864547delACC | c.595_597delACC | p.T199delT | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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