ATM S49C - Gene Variant Detail

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Gene ATM
Variant S49C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM S49C does not lie within any known functional domains of the Atm protein (UniProt.org). S49C retains the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), results in similar cell survival upon treatment with DNA damaging agents to wild-type Atm, and retains the ability to phosphorylate some Atm targets, but leads to decreased phosphorylation of the Atm target CDC25A, and decreased HDR activity in cultured cells (PMID: 35354106), and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM S49C

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Transcript NM_000051.4
gDNA chr11:g.108227849C>G
cDNA c.146C>G
Protein p.S49C
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.