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Literature summary for 6.3.4.5 extracted from

  • Engel, K.; Höhne, W.; Häberle, J.
    Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene (2009), Hum. Mutat., 30, 300-307.
    View publication on PubMed
Search for more literature for 6.3.4.5

Protein Variants

Protein Variants Comment Organism
D296G mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
E191Q mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
G156del mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
G324V mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
G347R mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
K277T mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
L160P mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
L206P mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
N158del mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
P96H mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
Q311del mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
Q401del mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
R127Q mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
R127W mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
R265C mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
R344del mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
S341F mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
S79P mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
T284I mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
Y291S mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens
Y359D mutation of the argininosuccinate synthetase gene, found in patients Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P00966
-
-

Synonyms

Synonyms Comment Organism
Argininosuccinate synthetase
-
 Homo sapiens
ASS1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of the enzyme may result in citrullinemia type I Homo sapiens
physiological function involved in urea cycle Homo sapiens