Table 2. Summary of the LAMAN mutations presented.
| Type of variation | |||
|---|---|---|---|
| cDNA level | Protein level | Exon/peptide | Reference |
| Human mutations | |||
| 215A-T | H72L | 2/a | [7] |
| IVS5−1G-C | Del(256–260) | 6/a | [13] |
| IVS7+2T-G* | Del(339–342) | 7/a | [13] |
| 1063A-C | T355P | 8/b | [13] |
| 1067C-G | P356R | 8/b | [13] |
| 1204G-A* | E402K | 9/b | [13] |
| 2140T-C | W714R | 17/d | [13] |
| 2248C-T | R750W | 18/d | [13] |
| 2426T-C | L809P | 20/d | [13] |
| Bovine mutations | |||
| 662G-A | R220H† | 2/a | [8] |
| 961T-C | F320L† | 3/a | [8] |
| Substitutions of the active-site nucleophile | |||
| 588C-G | D196E | 4/a | This study |
| 586G-A | D196N | 4/a | This study |
* These two mutations are located on the same allele.
† Correspond to R221H and F321L respectively in bovine LAMAN.