Abstract:
: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.
journal_name
Bloodjournal_title
Bloodauthors
Alloisio N,Wilmotte R,Morlé L,Baklouti F,Maréchal J,Ducluzeau MT,Denoroy L,Féo C,Forget BG,Kastally Rsubject
Has Abstract,Author List Incompletepub_date
1992-08-01 00:00:00pages
809-15issue
3eissn
0006-4971issn
1528-0020journal_volume
80pub_type
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