Variant "SLC7A5:rs148183733"
Search result: 1 record
Variant information
Gene:
SLC7A5 
Variant:
SLC7A5:rs148183733 
dbSNP ID:
rs148183733  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered brain toxicity of hyperphenylalaninaemia(1)  
Detail：
  • Target disease:
    Phenylketonuria (Orphanet_716)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered brain toxicity of hyperphenylalaninaemia 
    Evidence:
    Assessment of genotype–phenotype associations and gene activity study 
    Effect:
    mutations of the SLC7A5 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients.
    Reference:
    PMID16972176
    Title:
    LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria.
    Species studied:
    Human
    Abstract:
    The LAT1 amino acid exchanger is responsible for phenylalanine transport across the blood-brain barrier. As phenylalanine excess in the brain leads to mental retardation in untreated patients with phenylketonuria, mutations of the LAT1 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients. The aim of this study was to screen for LAT1 gene mutations in phenylketonuric patients. Within the coding sequence of the gene, three polymorphism and one new mutation (G41D) were detected. The protein sequence change due to the mutation described could influence the clinical course of phenylketonuria.