Table 1.
ATM gene variants detected in controls and breast cancer patients
| Position Exon/Intron | Nucleotide change | Residue | Variation type | Functional impact* |
|---|---|---|---|---|
| 7 | c.378 T > A | p.D126E | Non-Synonymous | Neutral |
| 7 | c.1287-18delT | N/A | Non-coding | - |
| 9 | c.735C > T | p.V245V | Synonymous | Neutral |
| 13 | c.1744 T > C | p.F582L | Non-Synonymous | Neutral |
| 15 | c.2119 T > C | p.S707P | Non-Synonymous | Neutral |
| 16 | c.2193C > T | p.Y731Y | Synonymous | Neutral |
| 18 | c.2442C > A | p.D814E | Non-Synonymous | Neutral |
| 19 | c.2572 T > C | p.F858L | Non-Synonymous | Damaging |
| 20 | c.2685A > G | p.L895L | Synonymous | Neutral |
| 20 | c.2805G > C | p.T935T | Synonymous | Neutral |
| 23 | c.3118A > G | p.M1040V | Non-Synonymous | Neutral |
| 24 | c.3161C > G | p.P1054R | Non-Synonymous | Damaging |
| 32 | c.4578C > T | p.P1526P | Synonymous | Neutral |
| 39 | c.5557G > A | p.D1853N | Non-Synonymous | Neutral |
| 55 | c.8536 + 13insT | N/A | Non-coding | - |
| 56 | c.8653 + 30insT | N/A | Non-coding | - |
| 62 | c.9372 + 8A > C | N/A | Non-coding | - |
http://genetics.bwh.harvard.edu/pph2/; http://provean.jcvi.org/genome_submit_2.php;
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; 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; http://evs.gs.washington.edu/EVS/.