Table 4 Analysis of PAH gene variation distribution
Position | Variant type | Allele of variation | ||
|---|---|---|---|---|
Number | Frequency | Number | Frequency | |
Exon 1 | 1 | 0.54% | 1 | 0.05% |
Intron 1 | 0 | 0.00% | 0 | 0.00% |
Exon 2 | 5 | 2.70% | 61 | 3.20% |
Intron 2 | 3 | 1.62% | 15 | 0.79% |
Exon 3 | 12 | 6.49% | 175 | 9.17% |
Intron 3 | 0 | 0.00% | 0 | 0.00% |
Exon 4 | 3 | 1.62% | 5 | 0.26% |
Intron 4 | 2 | 1.08% | 83 | 4.35% |
Exon 5 | 15 | 8.11% | 71 | 3.72% |
Intron 5 | 0 | 0.00% | 0 | 0.00% |
Exon 6 | 17 | 9.19% | 182 | 9.53% |
Intron 6 | 2 | 1.08% | 3 | 0.16% |
Exon 7 | 27 | 14.59% | 570 | 29.86% |
Intron 7 | 6 | 3.24% | 69 | 3.61% |
Exon 8 | 9 | 4.86% | 25 | 1.31% |
Intron 8 | 2 | 1.08% | 2 | 0.10% |
Exon 9 | 8 | 4.32% | 21 | 1.10% |
Intron 9 | 1 | 0.54% | 1 | 0.05% |
Exon 10 | 11 | 5.95% | 44 | 2.30% |
Intron 10 | 2 | 1.08% | 8 | 0.42% |
Exon 11 | 19 | 10.27% | 250 | 13.10% |
Intron 11 | 4 | 2.16% | 24 | 1.26% |
Exon 12 | 18 | 9.73% | 188 | 9.85% |
Intron 12 | 5 | 2.70% | 38 | 1.99% |
Exon13 | 1 | 0.54% | 1 | 0.05% |
Large-scale deletion | 9 | 4.86% | 69 | 3.61% |
Large-scale duplication | 2 | 1.08% | 2 | 0.10% |
5'UTR | 1 | 0.54% | 1 | 0.05% |
Total | 185 | 100.00 | 1909 | 100.00 |