Table 3.
Exon | Sequence Change | Protein Change | Allele Frequency AMD Patients | Allele Frequency Normals |
---|---|---|---|---|
3 | TTG→ATG | Leu55Met | 693/1838 = 37.70% | 250/736 = 33.97% |
5 | ATG → AGG | Met127Arg | 3/1774 = 0.17% | 1/714 = 0.14% |
5 | CAT → CGT | His155Arg | 1/1774 = 0.06% | 0/714 = 0.0% |
6 | CAA → CGA | Gln192Arg | 565/1918 = 29.45% | 284/740 = 38.38% |
6 | CAA → GAA | Gln192Glu | 7/1932 = 0.36% | 0/740 = 0.0% |
7 | GCT → GGT | Ala252Gly | 1/1894 = 0.05% | 0/730 = 0.0% |
PON1: Paraoxonase 1
AMD: age-related macular degeneration