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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00966 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
Argininosuccinate synthetase | - |
Homo sapiens |
ASS1 | - |
Homo sapiens |
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 |