Observed sequence variants occurring in the exon regions of the Mre11 complex genes
| Gene | Exon | Nt change | Effect on protein | Allele frequency* | |
|---|---|---|---|---|---|
| Hereditary cases | Controls | ||||
| *Heterozygotes. | |||||
| †Reported by Varon et al (1998) or the SNP database. | |||||
| ‡Only 307 controls were tested for this alteration. | |||||
| ND, not done. | |||||
| NBS1 | 2 | 102G→A | Leu34Leu† | 39.1% (59/151) | ND |
| 5 | 553G→C | Glu185Gln† | 43.7% (66/151) | ND | |
| 10 | 1197T→C | Asp399Asp† | 50.3% (76/151) | ND | |
| 11 | 1720A→T | Leu574Ile | 0.7% (1/151) | 1.3% (4/307)‡ | |
| 13 | 2016G→A | Pro672Pro† | 37.1% (56/151) | ND | |
| RAD50 | 2 | 204C→T | His68His | 0.7% (1/151) | ND |
| 3 | 280A→C | Ile94Leu | 1.3% (2/151) | 0.3% (3/1000) | |
| 5 | 671G→A | Arg224His | 2.0% (3/151) | 0.9% (9/1000) | |