amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis

Human Mutation
Hilde M F Riise StenslandØivind Nilssen

Abstract

α-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the MAN2B1 gene, encoding lysosomal α-mannosidase. The disorder is characterized by a range of clinical phenotypes of which the major manifestations are mental impairment, hearing impairment, skeletal changes, and immunodeficiency. Here, we report an α-mannosidosis mutation database, amamutdb.no, which has been constructed as a publicly accessible online resource for recording and analyzing MAN2B1 variants (http://amamutdb.no). Our aim has been to offer structured and relational information on MAN2B1 mutations and genotypes along with associated clinical phenotypes. Classifying missense mutations, as pathogenic or benign, is a challenge. Therefore, they have been given special attention as we have compiled all available data that relate to their biochemical, functional, and structural properties. The α-mannosidosis mutation database is comprehensive and relational in the sense that information can be retrieved and compiled across datasets; hence, it will facilitate diagnostics and increase our understanding of the clinical and molecular aspects of α-mannosidosis. We believe that the amamutdb.no structure and architecture will be applicabl...Continue Reading

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Citations

Jun 7, 2015·Orphanet Journal of Rare Diseases·Line BorgwardtAllan Meldgaard Lund
Jun 27, 2019·American Journal of Medical Genetics. Part a·Daphné LehalleLaurence Faivre
May 19, 2018·International Journal of Molecular Sciences·Maria Rachele CeccariniTommaso Beccari
Apr 25, 2019·Journal of Medicinal Chemistry·Rocío Rísquez-CuadroCarmen Ortiz Mellet
Sep 7, 2021·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Maria J MalaquiasMarina Magalhães

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