Deciphering gain-of-function from loss-of-function variants with AlphaMissense: A case study with the mechanosensitive PIEZO1 ion channel protein

Pathogenic missense mutations are commonly found in protein-coding regions of DNA, and often alter protein function. In the past decade, enormous experimental efforts have been undertaken through the development of functional assays, mutagenesis screenings, and computational prediction algorithms to...

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Detalhes bibliográficos

Principais autores:	Joshua Pillai, Adhvaith Sridhar, Kijung Sung, Linda Shi, Chengbiao Wu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2026-03-01
coleção:	Biochemistry and Biophysics Reports
Assuntos:	Piezo1 Congenital lymphatic dysplasia Hereditary xerocytosis AlphaMissense Mechanosensitive cation channel Gain-of-Function mutations
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2405580826000403
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