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Literature summary for 4.3.2.1 extracted from

  • Trevisson, E.; Burlina, A.; Doimo, M.; Pertegato, V.; Casarin, A.; Cesaro, L.; Navas, P.; Basso, G.; Sartori, G.; Salviati, L.
    Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations (2009), J. Biol. Chem., 284, 28926-28934.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 4.3.2.1

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens P04424
-
-
Saccharomyces cerevisiae
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte using DNA Homo sapiens
-

Synonyms

Synonyms Comment Organism
ARG4
-
 Saccharomyces cerevisiae
Argininosuccinate lyase
-
 Saccharomyces cerevisiae
Argininosuccinate lyase
-
 Homo sapiens
ASL
-
 Homo sapiens
hASL
-
 Homo sapiens