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Importance  The  ATP ‐binding cassette subfamily A member 3 ( ABCA 3) protein plays a vital role in surfactant homeostasis. Mutations in the   ABCA 3  gene lead to the development of interstitial lung disease. In the most severe manifestation, mutations can lead to a fatal respiratory distress syndrome in neonates.  ABCA 3 belongs to the same  ATP ‐binding cassette transporter superfamily as the cystic fibrosis transmembrane conductance regulator ( CFTR ), the gene that causes cystic fibrosis.    Objective  To classify  ABCA 3 mutations in a manner similar to  CFTR  mutations in order to take advantage of recent advances in therapeutics.    Methods  Sequence homology between the  CFTR  protein and the  ABCA 3 protein was established. The region of  CFTR  that is a target for the new potentiator class of drugs was of particular interest. We performed a literature search to obtain all published mutations that were thought to be disease causing. We classified these mutations using the established  CFTR  classification system. When possible, we drew on previous experimental classification of  ABCA 3 mutations.    Results  Although the proteins share the same overall structure, only a 19% identity was established between  CFTR  and  ABCA 3. The  CFTR  therapeutic target region has a 22% homology with the corresponding  ABCA 3 region. Totally 233 unique protein mutations were identified. All protein mutations were classified and mapped to a schematic diagram of the  ABCA 3 protein.    Interpretation  This new classification system for  ABCA 3, based on  CFTR  classification, will likely aid further research of clinical outcomes and identification of mutation‐tailored therapeutics, with the aim for improving clinical care for patients with  ABCA 3 mutations.

pediatric investigation

The classification of  ATP ‐binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system