Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
ConclusionOur study reports a novel pathogenic variant inGABRA2, characterizes the regions where pathogenic mutations are in the transmembrane helices, and underscores the value of considering sequence, evolutionary, and structural information as a strategy for variant interpretation of novel missense mutations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Alba Sanchis ‐Juan,
Marcia A. Hasenahuer,
James A. Baker,
Amy McTague,
Katy Barwick,
Manju A. Kurian,
Sofia T. Duarte,
NIHR BioResource,
Keren J. Carss,
Janet Thornton,
F. Lucy Raymond Tags: ORIGINAL ARTICLE Source Type: research