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 | 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 |