Table 1 High frequency variants of the PAH gene
Number | Trivial name (Protein effect) | Systematic name (DNA level) | Location | Variant type | Allele frequency (%) |
|---|---|---|---|---|---|
1 | p.Arg53His | c.158G > A | Exon 2 | Missense | 4.7 |
2 | p.Arg111* | c.331C > T | Exon 3 | Nonsense | 4.4 |
3 | — | c.442-1G > A | Intron 4 | Splicing | 3.4 |
4 | p.Ex6-96A > G | c.611A > G | Exon 6 | Splicing | 8.3 |
5 | p.Arg241Cys | c.721C > T | Exon 7 | Missense | 4.6 |
6 | p.Arg243Gln | c.728G > A | Exon 7 | Missense | 17.7 |
7 | p.Tyr356* | c.1068C > A | Exon 11 | Nonsense | 4.7 |
8 | p.Val399= | c.1197A > T | Exon 11 | Splicing | 6.4 |
9 | p.Arg413Pro | c.1238G > C | Exon 12 | Missense | 4.6 |