Estimated Allele Frequency | |||||
---|---|---|---|---|---|
Variant | Nucleotide Polymorphism4-a | Location | African (n = 48) | Asian (n = 48) | White (n = 48) |
G-50T | Promoter | 0.17 | 0.13 | 0.08 | |
R158C | C14558T | Exon 3 | 0.02 | 0 | 0 |
I192N | T15054A | Exon 4 | 0.04 | 0 | 0 |
D342N | G21734A | Exon 7 | 0.02 | 0 | 0 |
N404Y | A25687T | Exon 8 | 0 | 0 | 0.02 |
T143A | A14513G | Exon 3 | N.D. | N.D. | N.D. |
Estimated allele frequencies were calculated by dividing the number of mutations identified by the total number of chromosomes sampled (N = 144).
N.D., not determined.
↵4-a Nucleotide number relative to the transcriptional start site.