ABeta amyloidosis, Arctic type: genes and variants
ABeta amyloidosis, Arctic type is linked to 1 analyzed protein (APP). 3 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to ABeta amyloidosis, Arctic type
APP: Amyloid-beta precursor protein
Its processing produces multiple fragments involved in neuronal biology, including amyloid-beta peptides generated by beta- and gamma-secretase cleavage. Increased amyloidogenic processing, pathogenic variants, or increased gene dosage can cause autosomal dominant Alzheimer disease or cerebral amyloid angiopathy.
3 disease-causing and 0 uncertain variants in APP are linked to ABeta amyloidosis, Arctic type.
Known disease-causing variants in ABeta amyloidosis, Arctic type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APP E674G | 674 | Extracellular | Disease-causing |
| APP E583G | 583 | Extracellular | Disease-causing |
| APP E693G | 693 | Extracellular | Disease-causing |
Same protein, different disease
- Alzheimer disease is also caused by APP variants; they fall partly in the same places as the ABeta amyloidosis, Arctic type variants (22 disease-causing).
- Cerebral amyloid angiopathy, APP-related is also caused by APP variants; they fall partly in the same places as the ABeta amyloidosis, Arctic type variants (7 disease-causing).
Diseases related to ABeta amyloidosis, Arctic type
- Alzheimer disease, also linked to APP
- Cerebral amyloid angiopathy, APP-related, also linked to APP
- Dementia, also linked to APP
Frequently asked questions
Which genes are linked to ABeta amyloidosis, Arctic type?
In CATVariant, ABeta amyloidosis, Arctic type is linked to 1 analyzed protein: APP (Amyloid-beta precursor protein).
How many genetic variants are linked to ABeta amyloidosis, Arctic type?
3 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in ABeta amyloidosis, Arctic type 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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