Hb Yaizu beta79(EF3)Asp->Asn
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Variant was detected as a slow-moving Hb by IEF
CHROMATOGRAPHY Hb X and Hb A separate by anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GAC->AAC mutation at codon 79
FUNCTION STUDIES Not reported
STABILITY Stable
OCCURRENCE Found in a Japanese female
OTHER INFORMATION Quantity in the heterozygote 41.4%
       
REFERENCES
1. Harano, T., Harano, K., and Katsuki, T.: Hemoglobin, 19:21, 1995.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.