Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome

Table 2 LDLR exon 4 gene variants identified by Sanger Sequencing and their frequency in the study

Nucleotide change	Codon change	Amino acid change	Consequences	Allele type	Clinical Significance (According to ACMG-AMP)	number of cases
c.418G > T	GAG/TAG	p.E140*	Nonsense variant (Stop gained)	Hetero	Pathogenic (FH)	2
c.514G > A	GAC/AAC	p.D172N	Missense variant	Hetero	Pathogenic/Likely pathogenic (FH)	4
c.532G > A	GAT/AAT	p.D178N	Missense variant	Hetero	Likely pathogenic (FH)	1
c.404 T > A	TTG/TAG	p.L135*	Nonsense variant (Stop gained)	Hetero	Pathogenic	1

ACMG-AMP: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology; Hetero: Heterozygous; FH: Familial hypercholesterolemia

ISSN: 1758-5996