VARIANTS OF THE BETA CHAIN (single base changes)

Hb Name        Residue
Number
       Amino Acid
Substitution
       Mutation (mutations in
parentheses are presumed)
  
Raleigh 1(NA1) Val->Ac-Ala GTG->GCG
Deer Lodge 2(NA2) His->Arg (CAC->CGC)
Okayama 2(NA2) His->Gln (CAC->CAA or CAG)
Fukuoka 2(NA2) His->Tyr (CAC->TAC)
Graz 2(NA2) His->Leu CAC->CTC
Warwickshire 5(A2) Pro->Arg (CCT->CGT)
Tyne 5(A2) Pro->Ser CCT->TCT
S 6(A3) Glu->Val GAG->GTG
C 6(A3) Glu->Lys GAG->AAG
G-Makassar 6(A3) Glu->Ala (GAG->GCG)
Machida 6(A3) Glu->Gln (GAG->CAG)
G-San José 7(A4) Glu->Gly (GAG->GGG)
G-Siriraj 7(A4) Glu->Lys (GAG->AAG)
Rio Grande 8(A5) Lys->Thr (AAG->ACG)
J-Luhe 8(A5) Lys->Gln (AAG->CAG)
N-Timone 8(A5) Lys->Glu (AAG->GAG)
Pôrto Alegre 9(A6) Ser->Cys TCT->TGT
Ankara 10(A7) Ala->Asp (GCC->GAC)
Hamilton 11(A8) Val->Ile (GTT->ATT)
Windsor 11(A8) Val->Asp (GTT->GAT)
Washtenaw 11(A8) Val->Phe (GTT->TTT)
J-Lens 13(A10) Ala->Asp (GCC->GAC)
Sögn 14(A11) Leu->Arg CTG->CGG
Saki 14(A11) Leu->Pro (CTG->CCG)
Belfast 15(A12) Trp->Arg (TGG->AGG or CGG)
Randwick 15(A12) Trp->Gly (TGG->GGG)
J-Baltimore 16(A13) Gly->Asp (GGC->GAC)
D-Bushman 16(A13) Gly->Arg (GGC->CGC)
Nagasaki 17(A14) Lys->Glu (AAG->GAG)
J-Amiens 17(A14) Lys->Asn (AAG->AAC or AAT)
Nikosia 17(A14) Lys->Gln (AAG->CAG)
Baden 18(A15) Val->Met GTG->ATG
Sinai-Baltimore 18(A15) Val->Gly GTG->GGG
D-Ouled Rabah 19(B1) Asn->Lys (AAC->AAA or AAG)
Alamo 19(B1) Asn->Asp (AAC->GAC)
Malay 19(B1) Asn->Ser AAC->AGC
Olympia 20(B2) Val->Met GTG->ATG
Trollhättan 20(B2) Val->Glu GTG->GAG
Yusa 21(B3) Asp->Tyr (GAT->TAT)
Connecticut 21(B3) Asp->Gly (GAT->GGT)
Cocody 21(B3) Asp->Asn (GAT->AAT)
Karlskoga 21(B3) Asp->His GAT->CAT
E-Saskatoon 22(B4) Glu->Lys (GAA->AAA)
G-Taipei 22(B4) Glu->Gly (GAA->GGA)
G-Coushatta 22(B4) Glu->Ala (GAA->GCA)
D-Iran 22(B4) Glu->Gln (GAA->CAA)
D-Granada 22(B4) Glu->Val (GAA->GTA)
Strasbourg 23(B5) Val->Asp (GTT->GAT)
Miyashiro 23(B5) Val->Gly (GTT->GGT)
Palmerston North 23(B5) Val->Phe (GTT->TTT)
Riverdale-Bronx 24(B6) Gly->Arg (GGT->CGT)
Savannah 24(B6) Gly->Val (GGT->GTT)
Moscva 24(B6) Gly->Asp (GGT->GAT)
G-Taiwan-Ami 25(B7) Gly->Arg (GGT->CGT)
J-Auckland 25(B7) Gly->Asp (GGT->GAT)
E 26(B8) Glu->Lys GAG->AAG
Henri Mondor 26(B8) Glu->Val (GAG->GTG)
Volga 27(B9) Ala->Asp (GCC->GAC)
Knossos 27(B9) Ala->Ser GCC->TCC
Grange-Blanche 27(B9) Ala->Val (GCC->GTC)
Saint Louis 28(B10) Leu->Gln (CTG->CAG)
Genova 28(B10) Leu->Pro (CTG->CCG)
Chesterfield 28(B10) Leu->Arg CTG->CGG
Lufkin 29(B11) Gly->Asp GGC->GAC
Tacoma 30(B12) Arg->Ser AGG->AGT
Monroe 30(B12) Arg->Thr AGG->ACG
Yokohama 31(B13) Leu->Pro CTG->CCG
Hakkari 31(B13) Leu->Arg CTG->CGG
Perth 32(B14) Leu->Pro (CTG->CCG)
Castilla 32(B14) Leu->Arg (CTG->CGG)
Muscat 32(B14) Leu->Val (CTG->GTG)
Pitie-Salpetriere 34(B16) Val->Phe (GTC->TTC)
Philly 35(C1) Tyr->Phe (TAC->TTC)
Linköping 36(C2) Pro->Thr CCT->ACT
North Chicago 36(C2) Pro->Ser (CCT->TCT)
Sunnybrook 36(C2) Pro->Arg (CCT->CGT)
Hirose 37(C3) Trp->Ser (TGG->TCG)
Rothschild 37(C3) Trp->Arg (TGG->AGG or CGG)
Howick 37(C3) Trp->Gly (TGG->GGG)
Hazebrouck 38(C4) Thr->Pro (ACC->CCC)
Alabama 39(C5) Gln->Lys (CAG->AAG)
Vaasa 39(C5) Gln->Glu (CAG->GAG)
Tianshui 39(C5) Gln->Arg (CAG->CGG)
Athens-GA 40(C6) Arg->Lys (AGG->AAG)
Austin 40(C6) Arg->Ser (AGG->AGC or AGT)
Mequon 41(C7) Phe->Tyr (TTC->TAC)
Denver 41(C7) Phe->Ser (TTC->TCC)
Hammersmith 42(CD1) Phe->Ser TTT->TCT
Louisville 42(CD1) Phe->Leu (TTT->CTT)
Sendagi 42(CD1) Phe->Val (TTT->GTT)
G-Galveston 43(CD2) Glu->Ala (GAG->GCG)
Hoshida 43(CD2) Glu->Gln GAG->CAG
Mississippi 44(CD3) Ser->Cys (TCC->TGC)
Cheverly 45(CD4) Phe->Ser (TTT->TCT)
Arta 45(CD4) Phe->Cys TTT->TGT
K-Ibadan 46(CD5) Gly->Glu (GGG->GAG)
Gainesville-GA 46(CD5) Gly->Arg (GGG->AGG)
G-Copenhagen 47(CD6) Asp->Asn (GAT->AAT)
Gavello 47(CD6) Asp->Gly (GAT->GGT
Avicenna 47(CD6) Asp->Ala (GAT->GCT)
Maputo 47(CD6) Asp->Tyr (GAT->TAT)
Okaloosa 48(CD7) Leu->Arg (CTG->CGG)
Bab-Saadoum 48(CD7) Leu->Pro (CTG->CCG)
Las Palmas 49(CD8) Ser->Phe (TCC->TTC)
Edmonton 50(D1) Thr->Lys (ACT->[AAA or AAG])
Willamette 51(D2) Pro->Arg (CCT->CGT)
Osu-Christiansborg 52(D3) Asp->Asn (GAT->AAT)
Ocho Rios 52(D3) Asp->Ala (GAT->GCT)
Summer Hill 52(D3) Asp->His (GAT->CAT)
Jacksonville 54(D5) Val->Asp (GTT->GAT)
Matera 55(D6) Met->Lys (ATG->AAG)
J-Bangkok 56(D7) Gly->Asp (GGC->GAC)
Hamadan 56(D7) Gly->Arg (GGC->CGC)
G-Ferrara 57(E1) Asn->Lys (AAC->AAA or AAG)
J-Daloa 57(E1) Asn->Asp (AAC->GAC)
Dhofar 58(E2) Pro->Arg CCT->CGT
I-High Wycombe 59(E3) Lys->Glu (AAG->GAG)
J-Kaohsiung 59(E3) Lys->Thr (AAG->ACG)
J-Lome 59(E3) Lys->Asn (AAG->AAC or AAT)
Yatsushiro 60(E4) Val->Leu (GTG->CTG)
Collingwood 60(E4) Val->Ala (GTG->GCG)
Cagliari 60(E4) Val->Glu GTG->GAG
N-Seattle 61(E5) Lys->Glu (AAG->GAG)
Hikari 61(E5) Lys->Asn (AAG->AAC or AAT)
Bologna 61(E5) Lys->Met (AAG->ATG)
Duarte 62(E6) Ala->Pro (GCT->CCT)
Zürich 63(E7) His->Arg (CAT->CGT)
M-Saskatoon 63(E7) His->Tyr (CAT->TAT)
Bicêtre 63(E7) His->Pro (CAT->CCT)
J-Calabria 64(E8) Gly->Asp (GGC->GAC)
J-Sicilia 65(E9) Lys->Asn (AAG->AAC or AAT)
J-Cairo 65(E9) Lys->Gln (AAG->CAG)
J-Antakya 65(E9) Lys->Met (AAG->ATG)
I-Toulouse 66(E10) Lys->Glu (AAA->GAA)
Chico 66(E10) Lys->Thr (AAA->ACA)
M-Milwaukee-I 67(E11) Val->Glu (GTG->GAG)
Bristol 67(E11) Val->Asp (GTG->ATG)
Alesha 67(E11) Val->Met GTG->ATG
Sydney 67(E11) Val->Ala (GTG->GCG)
Manukau 67(E11) Val->Gly GTG->GGG
Mizuho 68(E12) Leu->Pro CTC->CCC
Brisbane 68(E12) Leu->His (CTC->CAC)
Rambam 69(E13) Gly->Asp (GGT->GAT)
City of Hope 69(E13) Gly->Ser GGT->AGT
Kenitra 69(E13) Gly->Arg (GGT->CGT)
Seattle 70(E14) Ala->Asp (GCC->GAC)
Christchurch 71(E15) Phe->Ser (TTT->TCT)
Headington 72(E16) Ser->Arg AGT->AGA
Vancouver 73(E17) Asp->Tyr (GAT->TAT)
Korle-Bu 73(E17) Asp->Asn (GAT->AAT)
Mobile 73(E17) Asp->Val (GAT->GTT)
Tilburg 73(E17) Asp->Gly (GAT->GGT)
Bushwick 74(E18) Gly->Val GGC->GTC
Shepherds Bush 74(E18) Gly->Asp (GGC->GAC)
Aalborg 74(E18) Gly->Arg (GGC->CGC)
Atlanta 75(E19) Leu->Pro CTG->CCG
Pasadena 75(E19) Leu->Arg (CTG->CGG)
J-Chicago 76(E20) Ala->Asp (GCT->GAT)
Calais 76(E20) Ala->Pro (GCT->CCT)
J-Iran 77(EF1) His->Asp (CAC->GAC)
Fukuyama 77(EF1) His->Tyr CAC->TAC
Quin-Hai 78(EF2) Leu->Arg (CTG->CGG)
G-Hsi-Tsou 79(EF3) Asp->Gly (GAC->GGC)
Tampa 79(EF3) Asp->Tyr (GAC->TAC)
Tigraye 79(EF3) Asp->His GAC->CAC
Yaizu 79(EF3) Asp->Asn GAC->AAC
G-Szuhu 80(EF4) Asn->Lys (AAC->AAA or AAG)
Baylor 81(EF5) Leu->Arg (CTC->CGC)
La Roche-sur-Yon 81(EF5) Leu->His (CTC->CAC)
Providence 82(EF6) Lys->Asn->Asp (AAG->AAT or AAC)
Rahere 82(EF6) Lys->Thr (AAG->ACG)
Helsinki 82(EF6) Lys->Met (AAG->ATG)
Ta-Li 83(EF7) Gly->Cys (GGC->TGC)
Pyrgos 83(EF7) Gly->Asp (GGC->GAC)
Muskegon 83(EF7) Gly->Arg (GGC->CGC)
Kofu 84(EF8) Thr->Ile (ACC->ATC)
Buenos Aires 85(F1) Phe->Ser (TTT->TCT)
Olomouc 86(F2) Ala->Asp (GCC->GAC)
D-Ibadan 87(F3) Thr->Lys (ACA->AAA)
Valletta 87(F3) Thr->Pro ACA->CCA
Quebec-Chori 87(F3) Thr->Ile (ACA->ATA)
Borås 88(F4) Leu->Arg (CTG->CGG)
Santa Ana 88(F4) Leu->Pro CTG->CCG
Creteil 89(F5) Ser->Asn (AGT->AAT)
Vanderbilt 89(F5) Ser->Arg (AGT->CGT)
Villaverde 89(F5) Ser->Thr (AGT->ACT)
Agenogi 90(F6) Glu->Lys (GAG->AAG)
Roseau-Pointe a Pitre 90(F6) Glu->Gly (GAG->GGG)
Pierre-Bénite 90(F6) Glu->Asp (GAG->GAC or GAT)
Sabine 91(F7) Leu->Pro (CTG->CCG)
Caribbean 91(F7) Leu->Arg CTG->CGG
Mozhaisk 92(F8) His->Arg (CAC->CGC)
M-Hyde Park 92(F8) His->Tyr (CAC->TAC)
Newcastle 92(F8) His->Pro (CAC->CCC)
Saint Etienne 92(F8) His->Gln (CAC->CAA or CAG)
J-Altgeld Gardens 92(F8) His->Asp (CAC->GAC)
Redondo 92(F8) His->Asn->Asp CAC->AAC
Okazaki 93(F9) Cys->Arg (TGT->CGT)
Barcelona 94(FG1) Asp->His (GAC->CAC)
Bunbury 94(FG1) Asp->Asn (GAC->AAC)
Chandigarh 94(FG1) Asp->Gly (GAC->GGC)
N-Baltimore 95(FG2) Lys->Glu AAG->GAG
J-Cordoba 95(FG2) Lys->Met (AAG->ATG)
Detroit 95(FG2) Lys->Asn (AAG->AAC or AAT)
Regina 96(FG3) Leu->Val CTG->GTG
Malmö 97(FG4) His->Gln CAC->CAA and CAC->CAG
Wood 97(FG4) His->Leu (CAC->CTC)
Nagoya 97(FG4) His->Pro (CAC->CCC)
Moriguchi 97(FG4) His->Tyr (CAC->TAC)
Köln 98(FG5) Val->Met GTG->ATG
Nottingham 98(FG5) Val->Gly GTG->GGG
Djelfa 98(FG5) Val->Ala (GTG->GCG)
Mainz 98(FG5) Val->Glu (GTG->GAG)
Kempsey 99(G1) Asp->Asn (GAT->AAT)
Yakima 99(G1) Asp->His (GAT->CAT)
Radcliffe 99(G1) Asp->Ala (GAT->GCT)
Ypsilanti (Ypsi) 99(G1) Asp->Tyr (GAT->TAT)
Hotel-Dieu 99(G1) Asp->Gly (GAT->GGT)
Chemilly 99(G1) Asp->Val (GAT->GTT)
Coimbra 99(G1) Asp->Glu (GAT->GAA or GAG)
Brigham 100(G2) Pro->Leu (CCT->CTT)
New Mexico 100(G2) Pro->Arg (CCT->CGT)
British Columbia 101(G3) Glu->Lys (GAG->AAG)
Rush 101(G3) Glu->Gln (GAG->CAG)
Alberta 101(G3) Glu->Gly (GAG->GGG)
Potomac 101(G3) Glu->Asp (GAG->GAC or GAT)
Richmond 102(G4) Asn->Lys (AAC->AAA or AAG)
Kansas 102(G4) Asn->Thr (AAC->ACC)
Beth Israel 102(G4) Asn->Ser (AAC->AGC)
Saint Mandé 102(G4) Asn->Tyr (AAC->TAC)
Heathrow 103(G5) Phe->Leu TTC->TTG
Saint Nazaire 103(G5) Phe->Ile (TTC->ATC)
Camperdown 104(G6) Arg->Ser (AGG->AGC or AGT)
Sherwood Forest 104(G6) Arg->Thr (AGG->ACG)
South Milwaukee 105(G7) Leu->Phe (CTC->TTC)
Southampton 106(G8) Leu->Pro CTG->CCG
Tübingen 106(G8) Leu->Gln CTG->CAG
Terre Haute 106(G8) Leu->Arg CTG->CGG
Burke 107(G9) Gly->Arg (GGC->CGC)
Lulu Island 107(G9) Gly->Asp GGC->GAC
Yoshizuka 108(G10) Asn->Asp (AAC->GAC)
Presbyterian 108(G10) Asn->Lys (AAC->AAA or AAG)
San Diego 109(G11) Val->Met GTG->ATG
Johnstown 109(G11) Val->Leu (GTG->CTG)
Showa-Yakushiji 110(G12) Leu->Pro CTG->CCG
Peterborough 111(G13) Val->Phe (GTC->TTC)
Stanmore 111(G13) Val->Ala (GTC->GCC)
Indianapolis 112(G14) Cys->Arg (TGT->CGT)
Yahata 112(G14) Cys->Tyr TGT->TAT
New York 113(G15) Val->Glu GTG->GAG
Zengcheng 114(G16) Leu->Met (CTG->ATG)
Durham-N.C. 114(G16) Leu->Pro CTG->CCG
Madrid 115(G17) Ala->Pro GCC->CCC
Hradec Kralove (or HK) 115(G17) Ala->Asp GCC->GAC
Hafnia 116(G18) His->Gln (CAT->CAA or CAG)
P-Galveston 117(G19) His->Arg (CAC->CGC)
Saitama 117(G19) His->Pro (CAC->CCC)
Minneapolis-Laos 118(GH1) Phe->Tyr (TTT->TAT)
Fannin-Lubbock 119(GH2) Gly->Asp GGC->GAC and GTC->CTG
at codon 111
Bougardirey-Mali 119(GH2) Gly->Val (GGC->GTC)
Iowa 119(GH2) Gly->Ala (GGC->GCC)
Hijiyama 120(GH3) Lys->Glu (AAA->GAA)
Riyadh 120(GH3) Lys->Asn (AAA->AAC or AAT)
Takamatsu 120(GH3) Lys->Gln (AAA->CAA)
Jianghua 120(GH3) Lys->Ile (AAA->ATA)
D-Los Angeles 121(GH4) Glu->Gln GAA->CAA
O-Arab 121(GH4) Glu->Lys GAA->AAA
St. Francis 121(GH4) Glu->Gly (GAA->GGA)
Beograd 121(GH4) Glu->Val GAA->GTA
D-Neath 121(GH4) Glu->Ala (GAA->GCA)
Villejuif 123(H1) Thr->Ile (ACC->ATC)
Khartoum 124(H2) Pro->Arg (CCA->CGA)
Ty Gard 124(H2) Pro->Gln (CCA->CAA)
Tunis 124(H2) Pro->Ser (CCA->TCA)
Hofu 126(H4) Val->Glu GTG->GAG
Beirut 126(H4) Val->Ala (GTG->GCG)
Dhonburi 126(H4) Val->Gly GTG->GGG
Complutense 127(H5) Gln->Glu (CAG->GAG)
Brest 127(H5) Gln->Lys (CAG->AAG)
Dieppe 127(H5) Gln->Arg CAG->CGG
J-Guantanamo 128(H6) Ala->Asp (GCT->GAT)
J-Taichung 129(H7) Ala->Asp (GCC->GAC)
K-Cameroon 129(H7) Ala->Asp/Glu (GCC->GAC)
Crete 129(H7) Ala->Pro (GCC->CCC)
La Desirade 129(H7) Ala->Val (GCC->GTC)
Wien 130(H8) Tyr->Asp (TAT->GAT)
Nevers 130(H8) Tyr->Ser (TAT->TCT)
Camden 131(H9) Gln->Glu (CAG->GAG)
Shelby 131(H9) Gln->Lys CAG->AAG
Shanghai 131(H9) Gln->Pro (CAG->CCG)
Sarrebourg 131(H9) Gln->Arg (CAG->CGG)
K-Woolwich 132(H10) Lys->Gln (AAA->CAA)
Yamagata 132(H10) Lys->Asn AAA->AAC and AAA->AAT
Cook 132(H10) Lys->Thr AAA->ACA
Extremadura 133(H11) Val->Leu (GTG->CTG)
North Shore 134(H12) Val->Glu (GTG->GAG)
Altdorf 135(H13) Ala->Pro (GCT->CCT)
Beckman 135(H13) Ala->Glu/Asp (GCT->GAT)
Hope 136(H14) Gly->Asp (GGT->GAT)
Brockton 138(H16) Ala->Pro (GCT->CCT)
Geelong 139(H17) Asn->Asp (AAT->GAT)
Hinsdale 139(H17) Asn->Lys (AAT->AAC or AAA)
Aurora 139(H17) Asn->Tyr AAT->TAT
Saint-Jacques 140(H18) Ala->Thr (GCC->ACC)
Himeji 140(H18) Ala->Asp (GCC->GAC)
Puttelange 140(H18) Ala->Val (GCC->GTC)
Olmsted 141(H19) Leu->Arg (CTG->CGG)
Ohio 142(H20) Ala->Asp (GCC->GAC)
Toyoake 142(H20) Ala->Pro (GCC->CCC)
Abruzzo 143(H21) His->Arg (CAC->CGC)
Little Rock 143(H21) His->Gln (CAC->CAA or CAG)
Syracuse 143(H21) His->Pro (CAC->CCC)
Rancho Mirage 143(H21) His->Asp (CAC->GAC)
Old Dominion 143(H21) His->Tyr (CAC->TAC)
Andrew-Minneapolis 144(HC1) Lys->Asn (AAG->AAT or AAC)
Mito 144(HC1) Lys->Glu (AAG->CAG)
Bethesda 145(HC2) Tyr->His (TAT->CAT)
Rainier 145(HC2) Tyr->Cys (TAT->TGT)
Osler 145(HC2) Tyr->Asp/Asn (TAT->GAT or AAT)
McKees Rocks 145(HC2) Tyr->Term (TAT->TAA)
Hiroshima 146(HC3) His->Asp (CAC->GAC)
York 146(HC3) His->Pro (CAC->CCC)
Cochin-Port Royal 146(HC3) His->Arg (CAC->CGC)
Cowtown 146(HC3) His->Leu (CAC->CTC)
Kodaira 146(HC3) His->Gln CAC->CAA


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.