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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

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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_001304717.2 chr10:g.87864545_87864547delACC c.595_597delACC p.T199delT RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864545_87864547delACC c.595_597delACC p.T199delT RefSeq GRCh38/hg38
NM_000314 chr10:g.87952220_87952222delATG c.595_597delATG p.M199delM RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87965448_87965450delGCA c.597_599delGCA p.Q199delQ 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_000314.6 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_000314.8 chr10:g.87952220_87952222delATG c.595_597delATG p.M199delM RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References