Familial hypobetalipoproteinemia 1: genes and variants
Familial hypobetalipoproteinemia 1 is linked to 2 analyzed proteins (APOB and ANGPTL3). 8 DNA variants are known to cause it; 1,250 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: familial hypobetalipoproteinemia 2
Genes linked to Familial hypobetalipoproteinemia 1
APOB: Apolipoprotein B-100
It provides the structural backbone for triglyceride-rich lipoproteins and LDL, while ApoB-100 also mediates LDL-receptor binding and clearance. Pathogenic variants can cause familial hypobetalipoproteinemia or defective ApoB-related hypercholesterolemia depending on their effect on particle assembly and receptor binding.
7 disease-causing and 1,247 uncertain variants in APOB are linked to Familial hypobetalipoproteinemia 1.
ANGPTL3: Angiopoietin-related protein 3
It restrains lipoprotein and endothelial lipases, thereby increasing circulating triglyceride and HDL-cholesterol levels. Loss-of-function variants produce familial combined hypolipidemia and are associated with lower atherosclerotic cardiovascular risk, making the pathway a therapeutic target.
1 disease-causing and 3 uncertain variants in ANGPTL3 are linked to Familial hypobetalipoproteinemia 1.
Known disease-causing variants in Familial hypobetalipoproteinemia 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOB R3527W | 3527 | Disease-causing (★★) | |
| APOB R490W | 490 | Vitellogenin | Disease-causing (★★) |
| APOB K3394T | 3394 | Basic (possible receptor binding region) | Disease-causing (★) |
| APOB R3527L | 3527 | Disease-causing (★) | |
| APOB K3394N | 3394 | Basic (possible receptor binding region) | Disease-causing (★) |
| ANGPTL3 F295L | 295 | Fibrinogen C-terminal | Disease-causing |
| APOB S1524F | 1524 | Disease-causing | |
| APOB V352F | 352 | Vitellogenin | Disease-causing |
Which prediction tools work for Familial hypobetalipoproteinemia 1
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 90 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to Familial hypobetalipoproteinemia 1
- Familial hypercholesterolemia, also linked to ANGPTL3 and APOB
- Hypercholesterolemia, familial, 1, also linked to APOB
- Homozygous familial hypercholesterolemia, also linked to APOB
- Myocardial infarction, also linked to APOB
- Hypercholesterolemia, autosomal dominant, type B, also linked to APOB
Frequently asked questions
Which genes are linked to Familial hypobetalipoproteinemia 1?
In CATVariant, Familial hypobetalipoproteinemia 1 is linked to 2 analyzed proteins: APOB (Apolipoprotein B-100) and ANGPTL3 (Angiopoietin-related protein 3).
How many genetic variants are linked to Familial hypobetalipoproteinemia 1?
1,576 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,250 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial hypobetalipoproteinemia 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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