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Table 2 Potential mutations in the ATM gene identified in Brazilian breast cancer patients

From: ATM gene mutations in sporadic breast cancer patients from Brazil

Exon position Nucleotide change Residue Functional impact* LOH Sample Age*** (years) Clinical stage
13 c.1636C > G p.L546V Damaging No M227 46 I
14 c.1810C > T p.P604S Damaging Yes** M231 50 IV
20 c.2804C > G p.T935R Neutral Yes** M214 51 III
39 c.5647C > T p.R1882X Protein truncation Yes** M115 75 III
42 c.6067G > A p.G2023R Damaging No M294 45 II
49 c.6919C > T p.L2307F Damaging No 72TL 67 II
Yes M214 51  
50 c.6995 T > C p.L2332P Neutral Yes 112TL 25 II
No M227 46  
  1. http://chromium.liacs.nl/LOVD2/home.php?select_db=ATM (Last update January 2012); http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?geneId=472;
  2. http://www.ensembl.org/Homo_sapiens/Gene/Variation_Gene/Table?db=core;g=ENSG00000149311;r=11:108093211–108239829; http://www.1000genomes.org/1000-genomes-browsers.
  3. *http://genetics.bwh.harvard.edu/pph2/; http://provean.jcvi.org/genome_submit_2.php.
  4. **LOH, indicates loss of the wild type allele.
  5. ***age at diagnosis.