Characteristics of AIP Mutations in the PBGD Gene
| Mutation | Exon | Outcome | |||
| CRIM[i] | cDNA[ii] | ||||
| 517C → T | 10 | − | R173W | + | |
| 518G → A | 10 | + | R173Q | + | |
| 673C → G | 12 | − | R225G | + | |
| 673C → T | 12 | − | R225X | − | |
| 713T → G | 12 | − | L278P | − | |
| 1073delA | 15 | − | frameshift | − | |
[i] (CRIM) Cross-reactive immunologic material (Mustajoki and Desnick 1985).
[ii] Mutation demonstrated in direct sequencing of cDNA (Kauppinen et al. 1995).