The A370T mutation represents the third single-amino acid change of the LDL receptor protein reported so far, which, in a heterozygous state, is not associated with the clinical phenotype of familial hypercholesterolemia.
Thus, these data confirm the absence of a significant impact of the A370T polymorphism on LDL receptor function, at least as measured by the effect on plasma lipid levels and CHD risk.
The A370T mutation represents the third single-amino acid change of the LDL receptor protein reported so far, which, in a heterozygous state, is not associated with the clinical phenotype of familial hypercholesterolemia.