Alagille syndrome due to a NOTCH2 point mutation: genes and variants
Alagille syndrome due to a NOTCH2 point mutation is linked to 1 analyzed protein (NOTCH2). 6 DNA variants are known to cause it; 231 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 Alagille syndrome due to a NOTCH2 point mutation
NOTCH2: Neurogenic locus notch homolog protein 2
It directs cell-fate decisions in developing and adult tissues through ligand-triggered transcriptional signaling. Pathogenic variants cause Alagille syndrome type 2 or Hajdu-Cheney syndrome depending on the molecular mechanism, and somatic alterations occur in several malignancies.
6 disease-causing and 231 uncertain variants in NOTCH2 are linked to Alagille syndrome due to a NOTCH2 point mutation.
Known disease-causing variants in Alagille syndrome due to a NOTCH2 point mutation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NOTCH2 M2042T | 2042 | Cytoplasmic | Disease-causing (★) |
| NOTCH2 D437A | 437 | EGF-like 11 | Disease-causing (★) |
| NOTCH2 C498R | 498 | EGF-like 13 | Disease-causing (★) |
| NOTCH2 P863S | 863 | EGF-like 22 | Disease-causing (★) |
| NOTCH2 C444Y | 444 | EGF-like 11 | Disease-causing |
| NOTCH2 H1882Y | 1882 | ANK 2 | Disease-causing |
Diseases related to Alagille syndrome due to a NOTCH2 point mutation
- Hajdu-Cheney syndrome, also linked to NOTCH2
Frequently asked questions
Which genes are linked to Alagille syndrome due to a NOTCH2 point mutation?
In CATVariant, Alagille syndrome due to a NOTCH2 point mutation is linked to 1 analyzed protein: NOTCH2 (Neurogenic locus notch homolog protein 2).
How many genetic variants are linked to Alagille syndrome due to a NOTCH2 point mutation?
253 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 231 are of uncertain significance or have conflicting reports.
Which uncertain variants in Alagille syndrome due to a NOTCH2 point mutation 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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