Protein Variants | Comment | Organism |
---|---|---|
D31N | missense mutation found in patients with late onset of argininosuccinic aciduria, residual activity | Homo sapiens |
E73K | missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive | Homo sapiens |
M382R | missense mutation found in patient with neonatal onset of argininosuccinic aciduria, residual activity | Homo sapiens |
Q286R | missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive | Homo sapiens |
R113Q | missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive | Homo sapiens |
R182Q | missense mutation found in patient with late onset of argininosuccinic aciduria, enzyme inactive | Homo sapiens |
R186Q | missense mutation found in patient with neonatal onset of argininosuccinic aciduria, residual activity | Homo sapiens |
R236W | missense mutation found in patient with neonatal onset of argininosuccinic aciduria, enzyme inactive | Homo sapiens |
R297Q | missense mutation found in patient with late onset of argininosuccinic aciduria, residual activity | Homo sapiens |
R456W missense mutation found in patient with neonatal onset of argininosuccinic aciduria | residual activity | Homo sapiens |
V178M | missense mutation combined with mutation R186Q on the other allele found in patient with neonatal onset of argininosuccinic aciduria, enzyme activity reduced compared to wild-type | Homo sapiens |
V335L | missense mutation found in patients with late onset of argininosuccinic aciduria, enzyme activity reduced compared to wild-type | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P04424 | - |
- |
Saccharomyces cerevisiae | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | using DNA | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
ARG4 | - |
Saccharomyces cerevisiae |
Argininosuccinate lyase | - |
Saccharomyces cerevisiae |
Argininosuccinate lyase | - |
Homo sapiens |
ASL | - |
Homo sapiens |
hASL | - |
Homo sapiens |