A publicly accessible online resource for recording and analyzing MAN2B1 variants. amamutdb.no offers structured and relational information on MAN2B1 mutations and genotypes along with associated clinical phenotypes. The following information is freely available as a service to the scientific community: Published data on disease causing mutations and benign polymorphisms and their effect on enzyme activity, protein conformation, processing and localization. Clinical and demographic data are available as statistical summaries. Sensitive information and unpublished data are protected.
Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway; Jupiter System Partner AS, Tromsø, Norway; Department of Biochemistry, University of Turku, Turku, Finland; Department of Clinical Medicine-Medical Genetics, University of Tromsø—The Arctic University of Norway, Tromsø, Norway; The Tromsø Internal Medicine Specialist Center, Tromsø, Norway