Application | Comment | Organism |
---|---|---|
medicine | identification of a novel autosomal recessive cataract locus on 7q33-q36.1 in a multiplex consanguineous family with isolated congenital cataractl. Mutation is a splice-site mutation in AGK, encoding acylglycerol kinase, which leads to aberrant splicing and predicted premature truncation | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of a novel autosomal recessive cataract locus on 7q33-q36.1 in a multiplex consanguineous family with isolated congenital cataractl. Mutation is a splice-site mutation in AGK, encoding acylglycerol kinase, which leads to aberrant splicing and predicted premature truncation | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q53H12 | - |
- |