Variant "ALG6:rs35383149"
Search result: 1 record
Variant information
Gene:
ALG6 
Variant:
ALG6:rs35383149 
dbSNP ID:
rs35383149  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Congenital disorder of glycosylation (DOID_5212)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Gene activity study 
    Effect:
    This alteration is as severe as the most common disease-causing mutation
    Reference:
    PMID14517965
    Title:
    Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
    Species studied:
    Human
    Abstract:
    Congenital Disorder of Glycosylation (CDG) type Ic is caused by mutations in ALG6. This gene encodes an alpha1,3 glucosyltransferase used for synthesis of the lipid linked oligosaccharide (LLO) precursor of the protein N-glycosylation pathway. CDG-Ic patients have moderate to severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties. We previously identified a typical patient with a heterozygous point mutation, c.391T>C (p.Tyr131His) in ALG6. Using complementation analysis of ALG6-deficient yeast, we show that this alteration is as severe as the most common disease-causing mutation, c998C>T (p. Ala333Val), which occurs in over half of all known CDG-Ic patients. The frequency of c.391T>C (p.Tyr131His) in the US population, is 0.0214, suggesting that homozygotes would occur at a rate of& tilde;1:2,200. We identified one patient with typical CDG-Ic symptoms and a homozygous p.Tyr131His alteration in ALG6. However, in contrast to most CDG patients, her LLO and plasma transferrin glycosylation appeared normal. Thus, it is unclear whether c.391T>C causes CDG-Ic or contributes to the symptoms. Genotyping additional patients with CDG-like symptoms will be required to resolve this issue.