title: Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
abstract: Familial amyloidotic polyneuropathy (FAP) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (TTR), previously known as prealbumin. Several disease-related variants of the protein, each with a different amino acid substitution and correlating DNA point mutation, have been identified. The TTR gene from a patient suffering from this disorder was asymmetrically amplified and directly sequenced, revealing a cytosine for thymine substitution in the second base of codon 30 and the creation of a novel Cfo I restriction endonuclease site in exon 2. This mutation results in a previously undescribed substitution of an alanine for valine in the final TTR protein. Analysis of the amino acid mutation reveals it to be a hydrophilic substitution at a hydrophobic core position. Alanine at position 30 represents the second FAP-associated mutation at position 30 in TTR.
authors.affiliation: Department of Medicine, Boston City Hospital, MA.
authors.forename: L A
authors.initials: LA
authors.lastname: Jones
authors.forename: J C
authors.initials: JC
authors.lastname: Skare
authors.forename: A S
authors.initials: AS
authors.lastname: Cohen
authors.forename: J A
authors.initials: JA
authors.lastname: Harding
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: M
authors.initials: M
authors.lastname: Skinner
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D000682:Amyloid / Q000235:genetics / Q000302:isolation & purification; D000686:Amyloidosis / Q000150:complications / Q000235:genetics*; D001483:Base Sequence; D004247:DNA; D005260:Female; D005858:Germany; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D000682:Amyloid; D011228:Prealbumin; D004247:DNA; D014633:Valine; D000409:Alanine