MUTATION IVS-II-850 (G->T); 
       105         105
CAACAG^CTC->CAACAT^CTC
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM The G->T change in the AG dinucleotide, required for normal splicing, abolishes this process and no normal mRNA is produced
OCCURRENCE In a Japanese family
OTHER INFORMATION No other information is available
       
REFERENCES
1. Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 1997.

This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 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 permission in writing from the Author.