HBS WITH MORE THAN ONE AMINO ACID SUBSTITION IN THE BETA CHAIN

Hb Name        Amino Acid
Substitution
       (Hb Name)        Presumed
Mutation
  
S-Antilles beta6(A3)Glu->Val (Hb S) GAG->GTG
beta23(B5)Val->Ile (---) GTT->ATT
C-Ziquinchor beta6(A3)Glu->Val (Hb S) GAG->GTG
beta58(E2)Pro->Arg (Dhofar) CCT->CGT
C-Harlem beta6(A3)Glu->Val (Hb S) GAG->GTG
beta73(E17)Asp->Asn (Korle-Bu) GAT->AAT
S-Providence beta6(A3)Glu->Val (Hb S) GAG->GTG
beta82(EF6)Lys->Asn->Asp (Providence) AAG->AAT or AAC
S-Oman beta6(A3)Glu->Val (Hb S) GAG->GTG
beta121(GH4)Glu->Lys (O-Arab) GAA->AAA
S-Travis beta6(A3)Glu->Val (Hb S) GAG->GTG
beta142(H20)Ala->Val (---) GCC->GTC
Arlington Park beta6(A3)Glu->Lys (Hb C) GAG->AAG
beta95(FG2)Lys->Glu (N-Baltimore) AAG->GAG
T-Cambodia beta26(B8)Glu->Lys (Hb E) GAG->AAG
beta121(GH4)Glu->Gln (D-Los Angeles) GAA->CAA
Grenoble beta51(D2)Pro->Ser (---) CCT->TCT
beta52(D3)Asp->Asn (Osu Christiansborg) GAT->AAT
Poissy beta56(D7)Gly->Arg (Hamadan) GGC->CGC
beta86(F2)Ala->Pro (---) GCC->CCC
Atlanta-Coventrya beta75(E19)Leu->Pro (Atlanta) CTG->CCG
beta141(H19)Leu->0 (Coventry) Not present
Villeparisis beta77(EF1)His->Tyr (Fukuyama) CAC->TAC
beta80(EF4)Asn->Ser (---) AAC->AGC
Duino beta92(F8)His->Pro (Newcastle) CAC->CCC
beta104(G6)Arg->Ser (Camperdown) AGG->AGC or AGT
Medicine Lake beta98(FG5)Val->Met (Köln) GTG->ATG
beta32(B14)Leu->Gln (---) CTG->CAG
(no name) beta111(G13)Val->Leu (---) GTC->CTC
beta119(GH2)Gly->Asp (Fannin-Lubbock) GGC->GAC
Masuda beta114(G16)Leu->Met (Zengcheng) CTG->ATG
beta119(GH2)Gly->Asp (Fannin-Lubbock) GGC->GAC
Cleveland beta121(GH4)Glu->Gln (D-Los Angeles) GAA->CAA
beta93(F9)Cys->Arg (Okazaki) TGT->CGT


a Recent information has shown that leucine at beta141 is not deleted but oxidized to hydroxyleucine; this was later also observed for Hb Atlanta heterozygotes described in the original paper.


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.