dbAQP-SNP

dbAQP-SNP catalogs missense single-nucleotide polymorphisms (SNPs) in human aquaporins and analyzes their potential impacts on AQP structure and transport function.

Key Features:

• Dataset compilation: Contains 2,798 missense SNPs across 13 human aquaporins (AQPs), including aquaglyceroporins of the major intrinsic protein (MIP) superfamily.
• Substitution-pattern analysis: Systematically analyzes substitution patterns to identify non-conservative changes, including shifts from small to large residues and from hydrophobic to charged residues.
• Functional-region focus: Identifies and catalogs mutations occurring within Asn-Pro-Ala (NPA) motifs and aromatic/arginine selectivity filters (Ar/R SFs).
• Pathogenic annotation: Highlights 22 missense SNP substitutions associated with pathogenic conditions as documented in the Online Mendelian Inheritance in Man (OMIM) database.
• Impact inference: Provides analyses aimed at assessing potential disruptions to structural integrity and transport capabilities of AQPs.

Scientific Applications:

• Structure–function research: Enables investigation of how specific missense SNPs alter AQP structural motifs and transport properties.
• Disease genetics: Supports clinical and genetic studies of AQP-related disorders by linking variants to OMIM-documented pathogenic substitutions.
• Variant prioritization: Facilitates prioritization of SNPs that produce non-conservative physicochemical changes or affect NPA motifs and Ar/R SFs.
• Biophysical and comparative analyses: Informs analyses of residue-property shifts and their potential consequences for channel selectivity and permeability.

Methodology:

Compilation of 2,798 missense SNPs across 13 human AQPs and systematic analysis of substitution patterns to identify non-conservative changes, focused examination of mutations in NPA motifs and Ar/R SFs, and cross-referencing with OMIM to flag 22 pathogenic substitutions.