title: Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.
abstract: We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of alpha I/78 peptide in spectrin digest. Clinical phenotype varied among the family members ranging from asymptomatic to mild haemolytic HE. The original mutation responsible is a G-C substitution of the spectrin alpha-gene: alpha 45 Arg-->Thr (AGG-->ACG). The corresponding spectrin is designated spectrin Anastasia. Utilizing a secondary structure predictive method we suggest that this mutation has a poor capability to induce conformational changes of the tetramerization site and thus shows a moderate elliptocytogenic potential.
authors.affiliation: Department of Paediatrics, Second University of Naples, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Perrotta
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
authors.forename: F
authors.initials: F
authors.lastname: De Angelis
authors.forename: L
authors.initials: L
authors.lastname: Pagano
authors.forename: G
authors.initials: G
authors.lastname: Colonna
authors.forename: S
authors.initials: S
authors.lastname: Cutillo
authors.forename: E
authors.initials: E
authors.lastname: Miraglia del Giudice
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017433:Protein Structure, Secondary; D013049:Spectrin / Q000235:genetics*
chemical_list: D013049:Spectrin