Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL

Rare diseases are estimated to affect 3.5%–5.9% of the population worldwide and are difficult to diagnose. Genome analysis is useful for diagnosis. However, since some variants, especially missense variants, are also difficult to interpret, tools to accurately predict the effect of missense variants...

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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	Eriko Aoki, Noriyoshi Manabe, Shiho Ohno, Taiga Aoki, Jun-Ichi Furukawa, Akira Togayachi, Kiyoko Aoki-Kinoshita, Jin-Ichi Inokuchi, Kenji Kurosawa, Tadashi Kaname, Yoshiki Yamaguchi, Shoko Nishihara
Format:	Article
Language:	English
Published:	Elsevier 2023-12-01
Subjects:	Arylsulfatase L Rare disease Missense variant Stabilization energy Sulfatase activity Protein instability
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426923000629