Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain

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• 作者：Claudio Bassot^a ; Giovanni Minervini^a ; Emanuela Leonardi^b ; Silvio C.E. Tosatto^a ; ^c ; ^{silvio.tosatto@unipd.it}
• 关键词：Pendrin ; SLC26A4 ; Pendred syndrome ; Non-syndromic hearing loss with enlarged vestibular aqueduct (ns-EVA) ; Homology modeling ; Mutation mapping ; Transmembrane protein
• 刊名：Biochimie
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：132
• 期：Complete
• 页码：109-120
• 全文大小：1836 K
• 卷排序：132

文摘

A homology model was built for the transmembrane region of pendrin. 147 known pathogenic mutations were mapped on the pendrin model and analyzed. Functional effects are suggested for the mutations.