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Updated: Jul 5, 2025

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基准分析AlphaMissense对囊性纤维化变体的病原性预测

Eli Fritz McDonald1,2, Kathryn E Oliver3,4, Jonathan P Schlebach5

  • 1Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.

PloS one
|January 25, 2024
PubMed
概括

AlphaMissense (AM) 显示出预测囊性纤维化 (CF) 误解变体的潜力,但其假阳性率很高. 虽然它与CFTR通道功能相关,但对于精确的治疗向需要新的方法.

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Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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