| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 1 |
608310.0005; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
VAL178MET; In a patient from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 532G-A transition in the ASL gene, resulting in a val178-to-met (V178M) substitution. |
| |
| Gene |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 2 |
M256T; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
MET256THR |