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SNP Database

rs7412APOE APOE2 (Arg158Cys)

Protective / Risk factor · ~8% global allele frequency

rs7412 defines the APOE2 allele through an arginine-to-cysteine substitution at position 158. APOE2 is protective against Alzheimer's disease but associated with type III hyperlipoproteinemia when homozygous.

Molecular Mechanism

APOE2 has reduced binding affinity for LDL receptors (~2% of normal), leading to impaired clearance of intermediate-density lipoproteins. This paradoxically provides neuroprotection while creating cardiovascular risk in homozygotes.

Peptide Therapeutic Relevance

Peptides targeting APOE-receptor binding interfaces could modulate lipid clearance. PepFold generates candidates exploring the Arg158Cys region and receptor interaction domains.

Gene: APOE (Apolipoprotein E)

Lipid transport, cholesterol metabolism, neuronal repair, and amyloid-beta clearance in the brain. APOE is the major genetic risk modulator for late-onset Alzheimer's disease.

Chromosome 19q13.32

Condition: Cardiovascular Disease (Genetic Risk)

Genetic variants in APOE, AGT, AGTR1, and lipid metabolism genes contribute to cardiovascular risk. Pharmacogenomics guides anticoagulant, antiplatelet, and antihypertensive therapy selection.

Prevalence: Leading cause of death globally: 17.9 million deaths/year (WHO 2023)

Related Variants

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