Immunodeficiency mutation databases (IDbases)

Immunodeficiency mutation databases (IDbases) aggregate and curate mutation and clinical data for primary immunodeficiencies to support genetic characterization and genotype–phenotype research.

Key Features:

• Locus-Specific Mutation Databases: Contains locus-specific databases for 107 immunodeficiency-related genes encompassing 4,140 public patient entries.
• Comprehensive Mutation Data: Records mutations at DNA, mRNA, and protein levels linked to reference sequences and scholarly articles.
• Disorder Coverage: Aggregates mutation data from over 100 genes associated with approximately 150 identified primary immunodeficiencies.
• Clinical Correlation Capabilities: Integrates clinical information with genetic data to support genotype–phenotype correlation analyses.
• Statistical Analysis Tools: Provides statistical analyses of mutation patterns, noting prevalence of missense and nonsense mutations and reporting that the most common single substitution is a nonsense mutation converting tryptophan to a stop codon and that arginine is the most frequently mutated and abundant mutant amino acid.

Scientific Applications:

• Centralized Mutation Repository: Serves as a centralized repository of genetic mutations linked to immune system disorders.
• Genotype–Phenotype Analysis: Enables exploration of genotype–phenotype relationships by linking specific mutations to clinical presentations.
• Mutation Pattern Investigation: Supports analysis of mutation patterns and their clinical implications through aggregated mutation and statistical data.

Methodology:

Systematic collection and curation of mutation data from various sources, organization into locus-specific databases, and integration of clinical information with genetic entries.