Table 3.
Mutants causing type I xanthinuria.
| Codon change | Amino acid change | Codon number | Phenotype | Reference |
|---|---|---|---|---|
| c. 140_141insG (c. 140dupG) | p.Cys48LeufsX12 | 47 | Xanthinuria, type 1 | [92] |
| c. 445C > T | p.Arg149Cys | 149 | Xanthinuria, type 1 | [93] |
| c. 641delC | p.Pro214GlnfsX4 | 214 | Xanthinuria, type 1 | [94,95] |
| c. 682C > T | p.Arg228X | 228 | Xanthinuria, type 1 | [37] |
| c. 1664_1665insC (c.1664dupC) | p.Ala556SerfsX15 | 555 | Xanthinuria, type 1 | [96] |
| c. 1663C > T | p.Pro555Ser | 555 | Decreased activity | [97] |
| c. 1820G > A | p.Arg607Gln | 607 | Decreased activity | [97] |
| c. 1868C > T | p.Thr623Ile | 623 | Decreased activity | [97] |
| c. 2107A > G | p.Ile703Val | 703 | Increased activity | [97] |
| c. 2164A > T | p.Lys722X | 722 | Xanthinuria, type 1 | [98] |
| c. 2473C > T | p.Arg825X | 825 | Xanthinuria, type 1 | [95] |
| c. 2567delC | p.Thr856LysfsX73 | 856 | Xanthinuria, type 1 | [37,96] |
| c. 2641C > T | p.Arg881X | 881 | Xanthinuria, type 1 | [95] |
| c. 2727C > A | p.Asn909Lys | 909 | Decreased activity | [97] |
| c. 2729C > A | p.Thr910Lys | 910 | XDH deficiency | [97] |
| c. 2729C > T | p.Thr910Met | 910 | Xanthinuria, type 1 | [52,92] |
| c. 3449C > G | p.Pro1150Arg | 1150 | Decreased activity | [97] |
| c. 3662A > G | p.His1221Arg | 1221 | Increased activity | [97] |
| c. 3953G > A | p.Cys1318Tyr | 1318 | Decreased activity | [97] |