VARIANTS OF THE ALPHA CHAIN (single base changes)

Hb Name        Residue
Number
       Amino Acid
Substitution
       Mutation (mutations in
parentheses are presumed)
  
Chongqing 2(NA2) Leu->Arg (CTG->CGG)
J-Toronto 5(A3) Ala->Asp (GCC->GAC)
Karachi 5(A3) Ala->Pro (GCC->CCC)
Sawara 6(A4) Asp->Ala (GAC->GCC)
Dunn 6(A4) Asp->Asn (GAC->AAC)
Ferndown 6(A4) Asp->Val (GAC->GTC)
Woodville 6(A4) Asp->Tyr (GAC->TAC)
Swan River 6(A4) Asp->Gly (GAC->GGC)
Tatras 7(A5) Lys->Asn (AAG->AAC)
Kurosaki 7(A5) Lys->Glu (AAG->GAG)
J-Wenchang-Wuming 11(A9) Lys->Gln (AAG->CAG)
Albany-Suma 11(A9) Lys->Asn (AAG->AAC or AAT)
J-Paris-I 12(A10) Ala->Asp GCC->GAC
Evanston 14(A12) Trp->Arg (TGG->AGG)
I-Interlaken 15(A13) Gly->Asp GGT->GAT
Ottawa 15(A13) Gly->Arg (GGT->CGT)
I 16(A14) Lys->Glu AAG->GAG
Beijing 16(A14) Lys->Asn (AAG->AAC or AAT)
Harbin 16(A14) Lys->Met (AAG->ATG)
Handsworth 18(A16) Gly->Arg (GGC->CGC)
Al-Ain Abu Dhabi 18(A16) Gly->Asp (GGC->GAC)
J-Kurosh 19(AB1) Ala->Asp (GCG->?; GCC->GAC?)
J-Tashikuergan 19(AB1) Ala->Glu (GCG->GAG)
Necker Enfants-Malades 20(B1) His->Tyr (CAC->TAC)
Le Lamentin 20(B1) His->Gln CAC->CAA
Hobart 20(B1) His->Arg (CAC->CGC)
J-Nyanza 21(B2) Ala->Asp (GCT->GAT)
Fontainebleau 21(B2) Ala->Pro (GCT->CCT)
J-Medellin 22(B3) Gly->Asp (GGC->GAC)
Memphis 23(B4) Glu->Gln (GAG->CAG)
Chad 23(B4) Glu->Lys GAG->AAG
G-Audhali 23(B4) Glu->Val (GAG->GTG)
Reims 23(B4) Glu->Gly (GAG->GGG)
Lisbon 23(B4) Glu->Asp (GAG->GAT)
Luxembourg 24(B5) Tyr->His (TAT->CAT)
Ramona 24(B5) Tyr->Cys TAT->TGT
Shenyang 26(B7) Ala->Glu (GCG->GAG)
Fort Worth 27(B8) Glu->Gly (GAG->GGG)
Spanish Town 27(B8) Glu->Val (GAG->GTG)
Shuangfeng 27(B8) Glu->Lys (GAG->AAG)
Hekinan 27(B8) Glu->Asp GAG->GAC
Agrinio 29(B10) Leu->Pro CTG->CCG
O-Padova 30(B11) Glu->Lys (GAG->AAG)
G-Honolulu 30(B11) Glu->Gln (GAG->CAG)
Prato 31(B12) Arg->Ser (AGG->AGC)
Queens 34(B15) Leu->Arg (CTG->CGG)
Bourmedès 37(C2) Pro->Arg (CCC->CGC)
Kariya 40(C5) Lys->Glu (AAG->GAG)
Kanagawa 40(C5) Lys->Met AAG->ATG
Miyano 41(C6) Thr->Ser (ACC->TCC or AGC)
Torino 43(CE1) Phe->Val (TTC->GTC)
Hirosaki 43(CE1) Phe->Leu (TTC->CTC)
Milledgeville 44(CE2) Pro->Leu (CCG->CTG)
Kawachi 44(CE2) Pro->Arg (CCG->CGG)
Fort de France 45(CE3) His->Arg (CAC->CGC)
Bari 45(CE3) His->Gln (CAC->CAG)
Poitiers 45(CE3) His->Asp (CAC->AAC)
Beilinson 47(CE5) Asp->Gly (GAC->GGC)
Hasharon 47(CE5) Asp->His GAC->CAC
Arya 47(CE5) Asp->Asn (GAC->AAC)
Cordele 47(CE5) Asp->Ala (GAC->GCC)
Kurdistan 47(CE5) Asp->Tyr GAC->TAC
Montgomery 48(CE6) Leu->Arg CTG->CGG
Savaria 49(CE7) Ser->Arg (AGC->CGC)
J-Sardegna 50(CE8) His->Asp (CAC->GAC)
Aichi 50(CE8) His->Arg (CAC->CGC)
J-Abidjan 51(CE9) Gly->Asp (GGC->GAC)
Russ 51(CE9) Gly->Arg (GGC->CGC)
J-Rovigo 53(E2) Ala->Asp (GCC->GAC)
Shimonoseki 54(E3) Gln->Arg (CAA->CGA)
Mexico 54(E3) Gln->Glu (CAA->GAA)
Thailand 56(E5) Lys->Thr (AAG->ACG)
Shaare Zedek 56(E5) Lys->Glu (AAG->GAG)
Belliard 56(E5) Lys->Asn (AAG->AAT or AAC)
Port Huron 56(E5) Lys->Arg AAG->AGG
L-Persian Gulf 57(E6) Gly->Arg (GGC->CGC)
J-Norfolk 57(E6) Gly->Asp (GGC->GAC)
M-Boston 58(E7) His->Tyr (CAC->TAC)
Tottori 59(E8) Gly->Val (GGC->GTC)
Adana 59(E8) Gly->Asp GGC->GAC
Zambia 60(E9) Lys->Asn (AAG->AAC or AAT)
Dagestan 60(E9) Lys->Glu (AAG->GAG)
J-Buda 61(E10) Lys->Asn (AAG->AAC or AAT)
J-Anatolia 61(E10) Lys->Thr AAG->ACG
Evans 62(E11) Val->Met GTG->ATG
Pontoise 63(E12) Ala->Asp (GCC->GAC)
G-Waimanalo 64(E13) Asp->Asn GAC->AAC
Perspolis 64(E13) Asp->Tyr (GAC->TAC)
Q-India 64(E13) Asp->His GAC->CAC
Guangzhou-Hangzhou 64(E13) Asp->Gly (GAC->GGC)
G-Philadelphia 68(E17) Asn->Lys AAC->AAG (alpha2alpha1)
or AAC->AAA (alpha2)
Ube-2 68(E17) Asn->Asp (AAC->GAC)
J-Habana 71(E20) Ala->Glu (GCG->GAG)
Ozieri 71(E20) Ala->Val (GCG->GTG)
Daneskgah-Tehran 72(EF1) His->Arg (CAC->CGC)
Q-Thailand 74(EF3) Asp->His GAC->CAC
Lille 74(EF3) Asp->Ala (GAC->GCC)
G-Pest 74(EF3) Asp->Asn (GAC->AAC)
Chapel Hill 74(EF3) Asp->Gly GAC->GGC
Q-Iran 75(EF4) Asp->His (GAC->CAC)
Duan 75(EF4) Asp->Ala GAC->GCC
Winnipeg 75(EF4) Asp->Tyr (GAC->TAC)
Matsue-Oki 75(EF4) Asp->Asn (GAC->AAC)
Mizushi 75(EF4) Asp->Gly (GAC->GGC)
Noko 76(EF5) Met->Lys (ATG->AAG)
Aztec 76(EF5) Met->Thr (ATG->ACG)
GuiZhou 77(EF6) Pro->Arg (CCC->CGC)
Stanleyville-II 78(EF7) Asn->Lys (AAC->AAG)
J-Singa 78(EF7) Asn->Asp (AAC->GAC)
Davenport 78(EF7) Asn->His AAC->CAC
Mantes-La-Jolie 79(EF8) Ala->Thr (GCC->ACC)
Ann Arbor 80(F1) Leu->Arg (CTG->CGG)
Nigeria 81(F2) Ser->Cys (TCC->TGC)
Garden State 82(F3) Ala->Asp (GCC->GAC)
Etobicoke 84(F5) Ser->Arg (AGC->AGG or
CGC or AGA)
G-Norfolk 85(F6) Asp->Asn (GAC->AAC)
Atago 85(F6) Asp->Tyr (GAC->TAC)
Inkster 85(F6) Asp->Val GAC->GTC
Moabit 86(F7) Leu->Arg (CTG->CGG)
Iwata 87(F8) His->Arg (CAC->CGC)
M-Iwate 87(F8) His->Tyr CAC->TAC
Loire 88(F9) Ala->Ser (GCG->TCG)
Columbia Missouri 88(F9) Ala->Val (GCG->GTG)
Valparaiso 88(F9) Ala->Gly (GCG->GGG)
Luton 89(FG1) His->Leu (CAC->CTC)
J-Broussais 90(FG2) Lys->Asn AAG->AAT (alpha2) or
AAG->AAC (alpha1)
J-Rajappen 90(FG2) Lys->Thr AAG->ACG
Handa 90(FG2) Lys->Met (AAG->ATG)
Port Phillip 91(FG3) Leu->Pro (CTT->CCT)
J-Cape Town 92(FG4) Arg->Gln CGG->CAG
Cemenelum 92(FG4) Arg->Trp (CGG->TGG)
Chesapeake 92(FG4) Arg->Leu (CGG->CTG)
Titusville 94(G1) Asp->Asn (GAC->AAC)
Setif 94(G1) Asp->Tyr (GAC->TAC)
Sunshine Seth 94(G1) Asp->His GAC->CAC
Çapa 94(G1) Asp->Gly GAC->GGC
Roanne 94(G1) Asp->Glu (GAC->GAG)
G-Georgia 95(G2) Pro->Leu CCG->CTG
Rampa 95(G2) Pro->Ser (CCG->TCG)
Denmark Hill 95(G2) Pro->Ala (CCG->GCG)
St. Luke's 95(G2) Pro->Arg CCG->CGG
Dallas 97(G4) Asn->Lys AAC->AAA
Turriff 99(G6) Lys->Glu (AAG->GAG)
Manitoba 102(G9) Ser->Arg AGC->CGC (alpha2) or
AGC->AGA (alpha1)
Contaldo 103(G10) His->Arg (CAC->CGC)
Sallanches 104(G11) Cys->Tyr TGC->TAC
Suan-Dok 109(G16) Leu->Arg CTG->CGG
Petah Tikva 110(G17) Ala->Asp (GCC->GAC)
Tonosho 110(G17) Ala->Thr (GCC->ACC)
Anamosa 111(G18) Ala->Val GCC->GTC
Hopkins-II 112(G19) His->Asp (CAC->GAC)
Strumica 112(G19) His->Arg (CAC->CGC)
Twin Peaks 113(GH1) Leu->His (CTC->CAC)
Chiapas 114(GH2) Pro->Arg (CCC->CGC)
Nouakchott 114(GH2) Pro->Leu (CCC->CTC)
Melusine 114(GH2) Pro->Ser (CCC->TCC)
J-Tongariki 115(GH3) Ala->Asp GCC->GAC
O-Indonesia 116(GH4) Glu->Lys GAG->AAG
Ube-4 116(GH4) Glu->Ala (GAG->GCG)
Oleander 116(GH4) Glu->Gln (GAG->CAG)
J-Meerut 120(H3) Ala->Glu GCG->GAG
Owari 121(H4) Val->Met (GTG->ATG)
Westmead 122(H5) His->Gln CAC->CAG
Mulhacen 123(H6) Ala->Ser GCC->TCC (alpha1) and
GCG->GCT at alpha120
Quong Sze 125(H8) Leu->Pro CTG->CCG
Tarrant 126(H9) Asp->Asn (GAC->AAC)
Sassari 126(H9) Asp->His (GAC->CAC)
Fukutomi 126(H9) Asp->Val (GAC->GTC)
Montefiore 126(H9) Asp->Tyr (GAC->TAC)
St. Claude 127(H10) Lys->Thr (AAG->ACG)
Jackson 127(H10) Lys->Asn (AAG->AAT or AAC)
Tunis-Bizerte 129(H12) Leu->Pro CTG->CCG
Sun Prairie 130(H13) Ala->Pro GCT->CCT
Yuda 130(H13) Ala->Asp (GCT->GAT)
Questembert 131(H14) Ser->Pro (TCT->CCT)
Caen 132(H15) Val->Gly (GTG->GGG)
Val de Marne 133(H16) Ser->Arg (AGC->CGC)
Pavie 135(H18) Val->Glu (GTG->GAG)
Bibba 136(H19) Leu->Pro CTG->CCG
Toyama 136(H19) Leu->Arg (CTG->CGG)
Chicago 136(H19) Leu->Met CTG->ATG
Attleboro 138(H21) Ser->Pro (TCC->CCC)
Tokoname 139(HC1) Lys->Thr (AAA->ACA)
Hanamaki 139(HC1) Lys->Glu (AAA->GAA)
Ethiopia 140(HC2) Tyr->His (TAC->CAC)
Singapore 141(HC3) Arg->Pro (CGT->CCT)
Suresnes 141(HC3) Arg->His (CGT->CAT)
J-Cubujuqui 141(HC3) Arg->Ser (CGT->AGT)
Legnano 141(HC3) Arg->Leu (CGT->CTT)
J-Camagüey 141(HC3) Arg->Gly (CGT->GGT)
Nunobiki 141(HC3) Arg->Cys (CTG->TGT)


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.