EC Number   |
Protein Variants |
Reference |
|---|
    4.3.2.1 | K288R |
132% of wild-type activity |
710563 |
| 4.3.2.1 | Q286R |
3% of wild-type activity |
650043 |
| 4.3.2.1 | R12Q |
6% of wild-type kcat |
650042 |
| 4.3.2.1 | S384A |
catalytic efficiency is decreased by an order of magnitude in comparison to wild-type delta II crystallin |
34447 |
| 4.3.2.1 | Y323F |
catalytic efficiency is decreased by an order of magnitude in comparison to wild-type delta II crystallin |
34447 |
| 4.3.2.1 | more |
construction of an asl gene-deleted mutant strain S2308DELTAASL by allelic exchange involving insertion of a chloramphenicol resistance cassette in a BamHI site |
-, 730344 |
| 4.3.2.1 | more |
double loop mutant DLM, enzymatically inactive |
664011 |
| 4.3.2.1 | more |
expression of mutant ASL proteins in Escherichia coli. The known classical p.Q286R, the novel classical p.K315E and the known mutations p.I100T, p.E189G and p.R385C, which all have been linked to a mild phenotype of argininosuccinic aciduria, show no significant residual activity. There is some enzyme activity detected with the p.V178M (5% of wild-type), and p.R379C (10% of wild-type) mutations in which Km values for argininosuccinic acid differs significantly from the wild-type ASL protein |
715811 |
| 4.3.2.1 | Q286R |
frequently complementing allele, 2% of wild-type kcat |
650042 |
| 4.3.2.1 | more |
generation of enterocyte-specific knockout mice of the enzyme Asl by intercrossing Aslflox/flox mice with transgenic mice expressing Cre recombinase under the control of the villin promoter. Emgineered mice are grossly indistinguishable from their littermate Aslflox/flox controls and exhibit similar growth curves and life span. Enterocytes isolated from mutant mice demonstrate an 80% reduction in mRNA expression of the enzyme |
728938 |
