Cloned (Comment) | Organism |
---|---|
DNA and ammino acid sequence determinaation and analysis, located on chromosome 3(q23-3q21), genotyping and identification of narurally occuring mutations involved in alkaptonuria, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C1273A | naturally occuring mutation, the mutation is involved in alkaptonuria | Homo sapiens |
additional information | the 551-552insG mutation is involved in alkaptonuria | Homo sapiens |
T1046G | naturally occuring mutation, the mutation is involved in alkaptonuria | Homo sapiens |
T533G | naturally occuring mutation, the mutation is involved in alkaptonuria | Homo sapiens |
T847C | naturally occuring mutation, the mutation is involved in alkaptonuria | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q93099 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
HgD | - |
Homo sapiens |
homogentisate 1,2 dioxygenase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | enzyme mutations in the homogentisate 1,2 dioxygenase gene are responsible for alkaptonuria in patients among Jordanian population, genotyping, overview | Homo sapiens |