ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
| العنوان: | ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene |
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| المؤلفون: | Mukesh Kumar, Vinod Scaria, Kavita Pandhare, Kalarickal V. Dileep, Mukta Poojary, B K Binukumar, Aditi Mhaske, Kam Y. J. Zhang |
| المصدر: | Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 2347-2356 (2020) Computational and Structural Biotechnology Journal |
| بيانات النشر: | Elsevier BV, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | medicine.medical_specialty, lcsh:Biotechnology, Population, Biophysics, Occipital horn syndrome, Disease, Biology, computer.software_genre, Biochemistry, Database, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, lcsh:TP248.13-248.65, ATP7A, Genetics, medicine, education, Gene, ComputingMethodologies_COMPUTERGRAPHICS, 030304 developmental biology, 0303 health sciences, education.field_of_study, Variants, Menkes disease, medicine.disease, Computer Science Applications, ATP7A Gene, Genetic epidemiology, ACMG classification, 030220 oncology & carcinogenesis, Medical genetics, computer, Research Article, Biotechnology |
| الوصف: | Graphical abstract ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders. These are rare diseases and their genetic epidemiology of the diseases is unknown. A number of genetic variants in the genes have been reported in published literature as well as databases, however, understanding the pathogenicity of variants and genetic epidemiology requires the data to be compiled in a unified format. To this end, we systematically compiled genetic variants from published literature and datasets. Each of the variants were systematically evaluated for evidences with respect to their pathogenicity and classified as per the American College of Medical Genetics and the Association of Molecular Pathologists (ACMG-AMP) guidelines into Pathogenic, Likely Pathogenic, Benign, Likely Benign and Variants of Uncertain Significance. Additional integrative analysis of population genomic datasets provides insights into the genetic epidemiology of the disease through estimation of carrier frequencies in global populations. To deliver a mechanistic explanation for the pathogenicity of selected variants, we also performed molecular modeling studies. Our modeling studies concluded that the small structural distortions observed in the local structures of the protein may lead to the destabilization of the global structure. To the best of our knowledge, ATP7A Clinical Genetics Resource is one of the most comprehensive compendium of variants in the gene providing clinically relevant annotations in gene. |
| تدمد: | 2001-0370 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef5df33c412ea7e357918df38ea783f https://doi.org/10.1016/j.csbj.2020.08.021 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....4ef5df33c412ea7e357918df38ea783f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20010370 |
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