SwissVar

SwissVar provides curated information on single amino acid polymorphisms from UniProtKB/Swiss-Prot and links these variants to disease associations.

Key Features:

• Comprehensive Collection: Aggregates single amino acid polymorphisms annotated in UniProtKB/Swiss-Prot with reported disease associations.
• Enhanced Variant Pages: Presents detailed molecular information for each variant, including associated protein products and mutation-specific annotations.
• Disease Query Capability: Enables querying of similar or related diseases to identify shared variant–disease relationships.
• Molecular View on Diseases: Integrates molecular-level data with disease annotations to support analyses of disease mechanisms.
• Direct Access to Annotations: Provides manual genotype–phenotype annotations from the literature and pre-computed data such as conservation scores and structural feature annotations when available.

Scientific Applications:

• Genomics and Proteomics Research: Use curated variant annotations to study the distribution and molecular consequences of amino acid substitutions in proteins.
• Clinical Variant Interpretation: Support interpretation of potentially pathogenic single amino acid changes through literature-based genotype–phenotype links and conservation/structural data.
• Disease Mechanism Elucidation: Facilitate investigations into molecular mechanisms by connecting variant positions and protein features with disease phenotypes.
• Therapeutic Target Identification: Aid identification of candidate targets by relating disease-associated variants to affected proteins and functional regions.

Methodology:

Aggregates variant annotations from UniProtKB/Swiss-Prot, integrates manual genotype–phenotype annotations from the literature, and provides pre-computed conservation scores and structural feature annotations accessible via an advanced search engine.