Таблица Hb B m

     Идентифицированные мутации в гене бета глобина (HBB)  человека

                        1) missense мутации
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     Кодон  :Замена нук-:Замена амино-:            Литература           :
            : леотидов  :   кислот    :                                 :
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        1     ATG-AAG     Met-Lys      Waye
J.S.,1997
        1     ATG-ACG     Met-Thr      Jankovich
L.,1990
        1     ATG-AGG     Met-Arg      Lam.,1990
        1     ATG-ATA     Met-Ile      Saba
L.,1992
        1     ATG-ATT     Met-Ile      Rahbar S.,1993
        1     ATG-GTG     Met-Val      Hattori
Y.,1991
        2     GTG-GCG     Val-Ala      Landin
B.,1993a
        3     CAC-CCC     His-Pro      Prchal
J.T.,1986
        3     CAC-CTG     His-His      Wood
N.,1995
        4     ACT-ACA     Thr-Thr      Agarwal
S.,1997
        6     CCT-TCT     Pro-Ser      Langdown
J.V.,1994
                                       Agarwal
S.,1997
        7     GAG-GTG     Glu-Val      Engelke
D.R.,1988  
        7     GAG-AAG     Glu-Lys      Siriboon.,1993
       10     TCT-TGT     Ser-Cys      Goncalves.,1994
       12     GTT-ATT     Val-Ile      Manka
L.,1992
       19     GTG-GGG     Val-Gly      Pobedimska
D.D.,1993
       20     AAC-AGC     Asn-Ser      Yang
K.G.,1989
       21     GTG-GAG     Val-Glu      Landin
B.,1994 
       22     GAT-AAT     Asp-Asn      Aguilar.,1993
       22     GAT-CAT     Asp-His      Landin
B.,1993b
       23     GAA-GCA     Glu-Ala      El-Hashemite
N.,1997
       27     GAG-AAG     Glu-Lys      Orkin
S.H.,1982a
       28     GCC-GAC     Ala-Asp      Plaseska
D.,1993
       28     GCC-TCC     Ala-Ser      Orkin
S.H.,1984b
       29     CTG-CGG     Leu-Arg      Thein
S.L.,1991 
       31     AGG-ACG     Arg-Thr      Banerjee.,1993
       31     AGG-AGT     Arg-Ser      Landin
B.,1993a
       32     CTG-CCG     Leu-Pro      Plaseska
D.,1991a
       32     CTG-CGG     Leu-Arg      Gurgey
A.,1995  
       33     CTG-CAG     Leu-Gln      Coleman
M.B.,1995
       44     GAG-CAG     Glu-Gln      Plaseska
D.,1991b
       46     TTT-TGT     Phe-Cys      Vassilopoulos
G.,1995
       57     GGC-GAC     Gly-Asp      Liu
J.S.,1992a
       61     GTG-GAG     Val-Glu      Baysal.,1995
       64     CAT-CGT     His-Arg      Miranda
S.R.P.,1994
       64     CAT-TAT     His-Tyr      Waye
J.S.,1994a   
       68     GTG-ATG     Val-Met      Molchanova
T.P.,1993a
       69     CTC-CCC     Leu-Pro      Keeling
M.M.,1991  
       73     AGT-AGA     Ser-Arg      Rochette
J.,1993
       75     GGC-GTC     Gly-Val      Srivastava.,1995 
       78     CAC-TAC     His-Tyr      Landin
B.,1993a
       80     GAC-CAC     Asp-His      Molchanova
T.P.,1993b 
       84     GGC-GAC     Gly-Asp      Qin
W.B.,1994a  
       89     CTG-CCG     Leu-Pro      Goncalves.,1994
       91     GAG-AAG     Glu-Lys      Paleari.,1994
       92     CTG-CCG     Leu-Pro      Gasperini
D.,1992 
       92     CTG-CGG     Leu-Arg      Waye
J.S.,1995a
       93     CAC-AAC     His-Asn      Harano
T.,1991a   
       93     CAC-TAC     His-Tyr      Molchanova
T.P.,1992   
       97     CTG-CCG     Leu-Pro      Lacan
P.,1996 
       98     CAC-CAA     His-Gln      Landin
B.,1996
       98     CAC-CAG     His-Gln      Landin
B.,1996
       99     GTG-ATG     Val-Met      Coleman
M.B.,1995
      105     AGG-ACG     Arg-Thr      Liu
J.S.,1992b
      107     CTG-CAG     Leu-Gln      Philippe
M.,1993
      109     AAC-AAG     Asn-Lys      Schnee
J.,1990
      110     GTG-ATG     Val-Met      Coleman
M.B.,1995
      111     CTG-CCG     Leu-Pro      Kobayashi
Y.,1987
      112     GTC-CTC     Val-Leu      Qin
W.B.,1994b
      113     TGT-TAT     Cys-Tyr      Harano
T.,1991b
      114     GTG-GAG     Val-Glu      Liu
J.S.,1992a
      115     CTG-CCG     Leu-Pro      Murru
S.,1992 
      116     GCC-GAC     Ala-Asp      Divoky
V.,1993c
      120     GGC-GAC     Gly-Asp      Qin
W.B.,1994b
      122     GAA-GTA     Glu-Val      Akar
N.,1995
      122     GAA-AAA     Glu-Lys      Lacerra
G.,1993 
      122     GAA-CAA     Glu-Gln      Schnee
J.,1990
      127     GTG-GGG     Val-Gly      Pagano
L.,1991
      128     CAG-CCG     Gln-Pro      Baysal.,1995
      128     CAG-CGG     Gln-Arg      Girodon
E.,1992
      129     GCT-GAT     Ala-Asp      Yamagishi
Y.,1993
      132     CAG-AAG     Gln-Lys      Churuk.,1992
      133     AAA-AAC     Lys-Asn      Harano
T.,1990
      136     GCT-CCT     Ala-Pro      Landin
B.,1993c
      139     GCT-CCT     Ala-Pro      Negri-Arjona
S.,1992
      141     GCC-GTC     Ala-Val      Wajcman
H.,1995
      146     TAT-AAT     Tyr-Asn      Hutt
P.J.,1996
      147     CAC-CAA     His-Gln      Harano
T.,1992 
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                     2) nonsense мутации
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     Кодон :Замена нук-:Замена амино-:            Литература           :
           : леотидов  :   кислот    :                                 :
 ------------------------------------------------------------------------
        6     GAG-TAG     Glu-Ter      Agarwal
S.,1997
       16     TGG-TAG     Trp-Ter      Kazazian
H.H.,1984
       16     TGG-TGA     Trp-Ter      Aelehla.,1990
       18     AAG-TAG     Lys-Ter      Chang
J.C.,1983
       23     GAA-TAA     Glu-Ter      Ghanem
N.,1992
       27     GAG-TAG     Glu-Ter      Baysal.,1995
       36     TAC-TAA     Tyr-Ter      Thein
S.L.,1990
       37     TGG-TGA     Trp-Ter      Boehm
C.D.,1986
       38     TGG-TAG     Trp-Ter      Xu.,1995
       38     TGG-TGA     Trp-Ter      Boehm
C.D.,1986
       40     CAG-TAG     Gln-Ter      Trecartin
R.F.,1981
       44     GAG-TAG     Glu-Ter      Atwen
G.F.,1988
       62     AAG-TAG     Lys-Ter      Gonzales-Redondo J.M.,1988
       91     GAG-TAG     Glu-Ter      Fucharoen
S.,1990
      113     TGT-TGA     Cys-Ter      Divoky
V.,1993a
      122     GAA-TAA     Glu-Ter      Kazazian
H.H.,1986
      128     CAG-TAG     Gln-Ter      Hall
G.W.,1991
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