Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Analbuminenia

OMIM:103600
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolALB
Reference transcriptNM_000477.5
DNA Changec.1791_1792insA
A.A. Changep.Leu599ThrfsX30
Exon/Intronexon 15
Mutation Typeinsertion
ReferenceMinchiotti L, Campagnoli M, Rossi A, Cosulich ME, Monti M, Pucci P, Kragh-Hansen U, Granel B, Disdier P, Weiller PJ, Galliano M.A nucleotide insertion and frameshift cause albumin K?nitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges.
Eur J Biochem. 2001 Jan;268(2):344-52.

Gene SymbolALB
Reference transcriptNM_000477.5
DNA Changec.802G>T
A.A. Changep.Glu268X
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceCampagnoli M, Sala A, Romano A, Rossi A, Nauta J, Koot BG, Minchiotti L, Galliano M.Novel nonsense mutation causes analbuminemia in a Moroccan family.
Clin Chem. 2005 Jan;51(1):227-9.