Mutations | Location | Nucleotide changes | Genotype | AMD (n=80) | Control (n=100) |
---|---|---|---|---|---|
P1116S | exon 23 | CAC→CTT | homozygote | 80 (100%) | 100 (100%) |
H1125L | exon 23 | CAC→CTC | homozygote | 80 (100%) | 100 (100%) |
Q1126L | exon 23 | CAA→CTT | homozygote | 80 (100%) | 100 (100%) |
L1844L | exon 41 | CTG→CTC | homozygote | 2 (2.5%) | 1 (1%) |
L1844L | exon 41 | CTG→CTC | heterozygote | 17 (21.3%) | 28 (28%) |
P1948P | exon 43 | CCA→CCG | homozygote | 2 (2.5%) | 1 (1%) |
P1948P | exon 43 | CCA→CCG | heterozygote | 17 (21.3%) | 28 (28%) |