NDLI: In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure

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In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure

Content Provider	Springer Nature Link
Author	Squitti, Rosanna Siotto, Mariacristina Bucossi, Serena Polimanti, Renato
Copyright Year	2013
Abstract	ATP7B is a copper-transporting ATPase that plays a key role in the regulation of copper homeostasis. Mutations in the ATP7B gene are causative for Wilson’s disease, and recent reports have suggested that genetic variants are associated with susceptibility to Alzheimer’s disease. Unfortunately, it is difficult to profile experimentally novel genetic variants in the ATP7B gene, because the human protein X-ray structure is not yet entirely understood. In order to investigate ATP7B non-synonymous substitutions, we used an in silico amino acid sequence-based approach. Specifically, we analyzed 337 ATP7B non-synonymous substitutions, which included Wilson’s disease-causing mutations (DVs) and non Wilson’s disease-causing variants (NDVs), with an algorithm that estimated a combined probability (cPdel) of an amino acidic change to be deleterious for the protein function. This approach appeared to reliably indentify the probability of DVs and NDVs to be deleterious and to profile still unknown gene variants. Specifically, after analyzing ATP7B protein domains with the cPdel method, we found results in line with the predicted–modeled domains and some new suggestions. In conclusion, a functional survey of amino acid changes in the ATP7B protein is provided herein, and we suggest that this bioinformatic method can furnish information about novel ATP7B mutations. Furthermore, the same approach can be applied to other uncharacterized proteins.
Starting Page	53
Ending Page	64
Page Count	12
File Format	PDF
ISSN	09660844
Journal	BioMetals
Volume Number	27
Issue Number	1
e-ISSN	15728773
Language	English
Publisher	Springer Netherlands
Publisher Date	2013-11-20
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Wilson’s disease Gene mutation Amino acidic substitution Protein domain Copper Biochemistry Pharmacology/Toxicology Microbiology Cell Biology Plant Physiology Medicine/Public Health
Content Type	Text
Resource Type	Article
Subject	Metals and Alloys Biochemistry, Genetics and Molecular Biology Biomaterials Agricultural and Biological Sciences

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