Table 2.
Variants identified in a screen of the HGF, PLAUR, SERPINE1, SP1 and SUB1 genes in 48 individuals with ASD.
| Gene | Marker | Location | Amino acid |
|---|---|---|---|
| PLAUR | rs344781 | Promoter | Non-coding |
| PLAUR | rs4251805 | Exon 1 | Non-coding |
| PLAUR | rs399145 | Exon 3 | Thr86Ala |
| PLAUR | rs2302524 | Exon 6 | Lys220Arg |
| SERPINE1 | rs2227635 | 5′ UTR | Non-coding |
| SERPINE1 | rs6092 | Exon 2 | Ala15Thr |
| SERPINE1 | rs6090 | Exon 2 | Val17Ile |
| SERPINE1 | rs6091 | Exon 3 | Ala119Ala |
| SERPINE1 | rs7242 | 3′ UTR | Non-coding |
| HGF | rs574666 | Exon 6 | His237His |
| HGF | rs5745687 | Exon 8 | Glu304Lys |
| SP1 | rs3741651 | Exon 3 | Gln480Gln |
| SUB1 | rs2008245 | Promoter | Non-coding |