Hb Altdorf	beta135(H13)Ala->Pro

CONTACT		Central cavity
HEMATOLOGY		Moderate hemolytic anemia in the heterozygote
ELECTROPHORESIS		No separation with standard techniques
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion of impure AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation GCT->CCT at codon 135
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity
STABILITY		Unstable
OCCURRENCE		Found in members of an Italian family
OTHER INFORMATION		Quantity in the heterozygote 35%

REFERENCES
1.		Marti, H.R., Winterhalter, K.H., Di Iorio, E.E., Lorkin, P.A., and Lehmann, H.: FEBS Lett., 63:193, 1976.

---

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.