TABLE 2.
PTS gene mutations in the PTPSD patients from Fujian province.
| Pathogenic variants | Protein effect or trivial name | Gene region | Type | Pathogenicity classification | No. Of alleles | RF (%) | References |
|---|---|---|---|---|---|---|---|
| c.155A>G | p.Asn52Ser | Exon 2 | Missense | P | 26 | 44.83 | Liu and Hsiao (1996) |
| c.259C>T | p.Pro87Ser | Exon 5 | Missense | P | 23 | 39.66 | Liu and Hsiao (1996) |
| c.84-291A>G | p.Tyr27Argfs*8 | Intron 1 | Splice | P | 2 | 3.45 | Gu et al. (2009) |
| c.73C>G | p.Arg25Gly | Exon 1 | Missense | LP | 1 | 1.72 | Liu et al. (1998) |
| c.166G>A | p.Val56Met | Exon 3 | Missense | P/LP | 1 | 1.72 | Thöny and Blau (1997) |
| c.170T>A | p.Val57Glu | Exon 3 | Missense | VUS | 1 | 1.72 | This study |
| c.244-2A>T | p. (?) | Intron 4 | Splice | LP | 1 | 1.72 | Wang et al. (2018) |
| c.272C>T | p.Lys91Arg | Exon 5 | Missense | P | 1 | 1.72 | Ye et al. (2007) |
| c.286G>A | p.Asp96Asn | Exon 5 | Missense | P/LP | 1 | 1.72 | Imamura et al. (1999) |
| c.317C>T | p.Thr106Met | Exon 6 | Missense | P/LP | 1 | 1.72 | Thöny and Blau (1997) |
Abbreviation: LP, likely pathogenic; P, pathogenic; VUS, variants of uncertain significance; RF, relative frequency; PTS, 6-pyruvoyl-tetrahydropterin synthase; PTPSD, 6-pyruvoyl-tetrahydropterin synthase deficiency. The number of PTS, transcription version is NM_000317.3.