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.
Alloisio
N
N
CNRS URA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.
Wilmotte
R
R
Morlé
L
L
Baklouti
F
F
Maréchal
J
J
Ducluzeau
M T
MT
Denoroy
L
L
Féo
C
C
Forget
B G
BG
Kastally
R
R
D000483:Alleles; D001483:Base Sequence; D002648:Child; D015180:Electrophoresis, Gel, Two-Dimensional; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D010641:Phenotype; D013049:Spectrin / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism
D046911:Macromolecular Substances; D009838:Oligodeoxyribonucleotides; D013049:Spectrin