Protein Variants | Comment | Organism |
---|---|---|
A630T | homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy | Homo sapiens |
M712T | homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy | Homo sapiens |
additional information | homozygote and heterozygte mutants of the epimerase and the kinase domains of the enzyme, respectively, overview | Homo sapiens |
V572L | homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y223 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
GNE | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations, screening study of mutant individuals, genotypes of the GNE myopathy patient population and phenotypes, overview | Homo sapiens |