rs28362731

This review article examines genetic variation in human aquaporins (AQPs), a family of 13 water and solute transport proteins, and their effects on water homeostasis phenotypes. The authors catalog naturally-occurring variants in AQP genes from published studies and genomic databases (HapMap, Celera, Perlegen), focusing on nonsynonymous mutations. They analyze functional domains critical for AQP function (NPA pore motifs, transmembrane domains, posttranslational modification sites) and use structural analysis to predict effects of uncharacterized variants. The paper identifies multiple disease-associated AQP mutations causing phenotypes including nephrogenic diabetes insipidus (AQP2), cataracts (AQP0/MIP), and Sjögren syndrome (AQP5).