Gene Variant Detail

Contact

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 ATM
Variant L1449*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L1449* results in a premature truncation of the Atm protein at amino acid 1449 of 3056 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1449* is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM L1449*

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Transcript NM_000051.3
gDNA chr11:g.108289711T>A
cDNA c.4346T>A
Protein p.L1449*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017789 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_006718843 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
NM_000051 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017791 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_011542843 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_011542840 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_005271561 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_005271562 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017792 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38
XM_017017790 chr11:g.108289711T>A c.4346T>A p.L1449* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM L1449* prostate adenocarcinoma predicted - sensitive Olaparib Case Reports/Case Series Actionable In a clinical case study, Lynparza (olaparib) treatment resulted in stable disease for more than 6 months in a patient with prostate adenocarcinoma harboring ATM L1449*, amplification of AR, MYC, BCL9, MCL1, MDM4, RPS6KB1, APEX1, PNP, ATP11B, and DCUN1D1, and a TMPRSS2-ERG fusion (PMID: 29304353). 29304353