EC Number   |
Protein Variants |
Reference |
|---|
    2.4.1.267 | 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 |
708197 |
| 2.4.1.267 | D307A |
activity is unaffected by the mutation |
759846 |
| 2.4.1.267 | D69A |
loss of activity |
759846 |
| 2.4.1.267 | D69N |
strong reduction of activity |
759846 |
| 2.4.1.267 | D99A |
loss of activity |
759846 |
| 2.4.1.267 | D99N |
activity is unaffected by the mutation |
759846 |
| 2.4.1.267 | delI299/F304S |
patient with three mutations in the hALG6 gene. The maternal allele has an intronic G -> A mutation resulting in skipping of exon3 (IVS3 + 5G > A). This produces a nonfunctional enzyme as shown by its inability to restore normal glycosylation in a Saccharomyces cerevisiae strain lacking a functional ALG6. The paternal allele has two mutations. One is a deletion of three bases (895897delATA) leading to an in-frame deletion of isoleucine 299 (delI299) located in a transmembrane domain. The second mutation on the same allele 911T > C causes a F304S change. When expressed in the ALG6 deficient yeast strain, this allele restores glycosylation but the mRNA is unstable or inefficiently transcribed, contributing to the impaired glycosylation in the patient |
709966 |
| 2.4.1.267 | E306A |
activity is unaffected by the mutation |
759846 |
| 2.4.1.267 | E379A |
activity is unaffected by the mutation |
759846 |
| 2.4.1.267 | F304S |
natural variant, common polymorphism reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth, may exacerbate the clinical severity of patients with CDG1A |
708652 |
