title: 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.
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 applicable for the development of databases for any monogenic disorder.
authors.affiliation: Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
authors.forename: Hilde Monica Frostad
authors.initials: HM
authors.lastname: Riise Stensland
authors.affiliation: Jupiter System Partner AS, Tromsø, Norway.
authors.forename: Gabrio
authors.initials: G
authors.lastname: Frantzen
authors.affiliation: Department of Biochemistry, University of Turku, Turku, Finland.
authors.forename: Elina
authors.initials: E
authors.lastname: Kuokkanen
authors.affiliation: Department of Clinical Medicine-Medical Genetics, University of Tromsø-The Arctic University of Norway, Tromsø, Norway.
authors.forename: Elisabeth Kjeldsen
authors.initials: EK
authors.lastname: Buvang
authors.affiliation: Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
authors.forename: Helle Bagterp
authors.initials: HB
authors.lastname: Klenow
authors.affiliation: Department of Biochemistry, University of Turku, Turku, Finland.
authors.forename: Pirkko
authors.initials: P
authors.lastname: Heikinheimo
authors.affiliation: The Tromsø Internal Medicine Specialist Center, Tromsø, Norway.
authors.forename: Dag
authors.initials: D
authors.lastname: Malm
authors.affiliation: Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.|Department of Clinical Medicine-Medical Genetics, University of Tromsø-The Arctic University of Norway, Tromsø, Norway.
authors.forename: Øivind
authors.initials: Ø
authors.lastname: Nilssen
mesh_terms: D000483:Alleles; D030541:Databases, Genetic; D056726:Genetic Association Studies; D005838:Genotype; D009154:Mutation; D010641:Phenotype; D011487:Protein Conformation; D012984:Software; D013329:Structure-Activity Relationship; D043323:alpha-Mannosidase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008363:alpha-Mannosidosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D043323:alpha-Mannosidase
keywords: MAN2B1; Mutation database; alpha-mannosidosis; lysosomal disorder