Summary of GCH1 mutations identified
| Patient | Exon | Codon change | Protein alteration | Restriction site created/abolished | Control chromosome mutations |
|---|---|---|---|---|---|
| 2 | 6 | AAA→TAA | Lys224Stop | Alu-I+ | 0/210 |
| 2 | 1 | CCC→CTC | Pro23Leu | Taq-I+ | 1/210 |
| 7 | 1 | GAT→AAT | Asp115Asn1-150 | Dde-I− | 0/210 |
(+/− indicates creation or abolition of restriction site respectively).
↵1-150 Disrupts −1 position of exon 1-intron 1 splice donor site.