Table 1.
Mutations in the CD18 gene causing leucocyte adhesion deficiency (LAD)
| Missense/nonsense | ||||
| Codon | Exon | Nucleotide | Amino acid | Reference |
| 1 | 2 | ATG-AAG | Met-Lys | 22 |
| 128 | 5 | GAC-AAC | Asp-Asn | 14 |
| 149 | 5 | CTA-CCA | Leu-Pro | 11 |
| 169 | 6 | GGG-AGG | Gly-Arg | 11 |
| 178 | 6 | CCG-CTG | Pro-Leu | 12 |
| 196 | 6 | AAA-ACA | Lys-Thr | 2 |
| 284 | 7 | GGC-AGC | Gly-Ser | 21 |
| 351 | 9 | AAT-AGT | Asn-Ser | 15 |
| 534 | 12 | TGC-TGA | Cys-Stop | 17 |
| 586 | 13 | CGG-TGG | Arg-Trp | 15 |
| 593 | 13 | CGT-TGT | Arg-Cys | 2 |
| Splicing | ||||
| Relative location | Intron | Donor/acceptor | Substitution | Reference |
| − 14 | 6 | as | C-A | 15 |
| + 3 | 9 | ds | G-C | 4 |
| + 1 | 7 | ds | G-A | 14 |
| Deletions | ||||
| Codon | Exon | Size (bp) | Reference | |
| 39 | 3 | 10 | 17 | |
| 418 | 11 | 2 | 20 | |
| 690 | 14 | 1 | 16 | |
| 553 | 13 | 220 | 12 | |
| 110 | 5 | 171 | This work | |
as, acceptor site; ds, donor site.