Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
Copyright policy Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
Spectrin Jendouba (alpha II/31) was found in a Tunisian family. In the heterozygous state, it is associated with asymptomatic elliptocytosis and a minimal defect in spectrin dimer self-association. On partial digestion of spectrin with trypsin, an abnormal cleavage appeared following Lys 788. Peptide and DNA sequencing indicated that the responsible mutation is alpha 791 Asp----Glu (GAC----GAA). As in most alpha-spectrin variants associated with elliptocytosis, the change alters helix 3 of the proposed triple helical model of spectrin structure. Modified helix 3 in repeat alpha 8 is the most distant from the N-terminus of alpha-spectrin in known variants associated with elliptocytosis.
Male, Base Sequence, Macromolecular Substances, Molecular Sequence Data, Elliptocytosis, Hereditary, Genetic Variation, Spectrin, Exons, Pedigree, Phenotype, Oligodeoxyribonucleotides, Mutation, Humans, Electrophoresis, Gel, Two-Dimensional, Electrophoresis, Polyacrylamide Gel, Female, Child, Alleles
Male, Base Sequence, Macromolecular Substances, Molecular Sequence Data, Elliptocytosis, Hereditary, Genetic Variation, Spectrin, Exons, Pedigree, Phenotype, Oligodeoxyribonucleotides, Mutation, Humans, Electrophoresis, Gel, Two-Dimensional, Electrophoresis, Polyacrylamide Gel, Female, Child, Alleles
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