Protein Variants | Comment | Organism |
---|---|---|
A333V | analysis of lipid-linked oligosaccharides in cultured fibroblasts indicates accumulation of Man9GlcNAc2-PP-Dol. Sequence analysis of ALG6 reveals a deletion of exon 3 (c.257 + 5G > A) in combination with a missense mutation (c.998C > T, p.Ala333Val). The patient shows skeletal dysplasia with brachytelephalangy | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y672 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
ALG6 | - |
Homo sapiens |