An extensive in silico analysis of missense mutations of the human AIMP2 gene

An extensive in silico analysis of missense mutations of the human AIMP2 gene

HLD17 (Hypomyelinating Leukodystrophy 17) is an inherited white matter disorder characterized by insufficient myelin production due to biallelic loss of function mutations in the aminoacyl-tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2) gene. In silico analysis of SNVs (single...

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Bibliographic Details
Main Authors: Shima Farrokhi, Atieh Eslahi, Farzaneh Alizadeh, Zahra Farshchian, Yasamin Yousefi, Majid Mojarrad
Format: Article
Language:English
Published: Elsevier 2024-10-01
Series:Heliyon
Subjects:
Hypomyelinating leukodystrophy 17
AIMP2
MSC complex
Insilico
nsSNVs
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024125911
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