Allele frequency of sequence variants in normal controls and in patients with HAE
| Sequence variation | Allele frequency (donors, n = 102) | Allele frequency (patients, n = 25) |
|---|---|---|
| The frequency of the Val458Met and Thr285Ala amino acid substitutions was determined by NlaIII and CviJI digestion respectively. | ||
| The t566c nucleotide substitution was determined by AvaII digests. The validity of the digests was confirmed by sequence analysis. | ||
| The allele frequency of a14011g in a control population is taken from.10 | ||
| *Values from n=40 normal controls. | ||
| Val458Met | 0.69/0.31 | 0.56/0.44 |
| t566c | 0.96/0.04 | 0.92/0.08 |
| a14011g | 0.28/0.72 | 0.32/0.68 |
| Thr285Ala | 1.0/0.0* | 0.93/0.07 |