Таблица Hb A m

 
   Идентифицированные мутации в гене альфа глобина (HBA1)  человека

                    1)  missense   мутации
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     Кодон :Замена нук-:Замена амино-:          Литература           :
           :  леотидов :    кислот   :                               :
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       -1     ATG-GTG      Met-Val       Moi
P.,1987
        1     GTG-GAG      Val-Glu       Vasseur
C.,1991    
                                         Vasseur
C.,1992
        2     CTG-CGG      Leu-Arg       Zeng
Y.,1984   
        3     TCT-TTT      Ser-Phe       Prehu
C.,2001
        5     GCT-GAT      Ala-Asp       Crookston
J.H.,1965
        5     GCT-CCT      Ala-Pro       Ahmad
A.,1986
        6     GAC-AAC      Asp-Asn       Jue
D.L.,1979   
                                         Baklouti
F.,1988a
        6     GAC-GTC      Asp-Val       Lee-Potter
J.P.,1981
        6     GAC-GCC      Asp-Ala       Sumida
I.,1973
        6     GAC-GGC      Asp-Gly       Harano
T.,1996      
                                         Moo-Penn
W.F.,1987
        6     GAC-TAC      Asp-Tyr       Como
P.F.,1986
        7     AAG-AAC      Lys-Asn       Wajcman
H.,1994a   
        7     AAG-GAG      Lys-Glu       Harano
T.,1995a
       11     AAG-AAC      Lys-Asn       Webber
B.B.,1983
       11     AAG-GAG      Lys-Glu       Pootrakul
S.,1975
       11     AAG-CAG      Lys-Gln       Qualtieri
A.,1995    
                                         Zeng
Y.,1981
       12     GCC-GAC      Ala-Asp       Molchanova
T.P.,1994a
                                         Niazi
G.A.,1975  
                                         Rosa
J.,1966
       14     TGG-A(C)GG   Trp-Arg       Honig
G.R.,1982
                                         Moo-Penn
W.F.,1983
       15     GGT-GAT      Gly-Asp       Harano
K.,1984  
                                         Molchanova
T.P.,1994b
       15     GGT-CGT      Gly-Arg       Pootrakul
S.,1974  
                                         Vella
F.,1974a  
                                         Yodsowan
B.,2000
       16     AAG-AAC      Lys-Asn       Liang
C.C.,1982
       16     AAG-ATG      Lys-Met       Fleming
P.J.,1978      
                                         Zeng
Y.,1984  
       16     AAG-GAG      Lys-Glu       Murayama
M.,1962 
                                         Beale
D.,1965
                                         Schneider
R.G.,1966 
       18     GGC-CGC      Gly-Arg       Griffiths
K.D.,1977
                                         Al-Awamy
B.,1985b   
                                         Chih-Chuan
L.,1981 
       18     GGC-GAC      Gly-Asp       Abbes
S.,1992
       19     GCG-         Ala-Asp       Rahbar
S.,1976 
       19     GCG-GAG      Ala-Glu       Houjun
L.,1984
       20     CAC-CGC      His-Arg       Fleming
P.J.,1987
       20     CAC-CAA      His-Gln       Harano
T.,1983b     
                                         Malcorra-Azpiazu J.J.,1988  
                                         Sellaye
M.,1982
       20     CAC-TAC      His-Tyr       Wajcman
H.,1980  
       21     GCT-CCT      Ala-Pro       Wajcman
H.,1989a
       21     GCT-GAT      Ala-Asp       Kendall
A.G.,1973
       22     GGC-GAC      Gly-Asp       Gottlieb
A.J.,1964
       23     GAG-AAG      Glu-Lys       Boyer
S.H.,1968
       23     GAG-GTG      Glu-Val       Marengo-Rowe A.J.,1968
       23     GAG-CAG      Glu-Gln       Kraus
A.P.,1965
                                         Kraus
A.P.,1967   
                                         Cooper
M.R.,1973
       23     GAG-GGG      Glu-Gly       Bardakdjian-Michau J.,1989  
       23     GAG-GAC      Glu-Asp       Wajcman
H.,1994a
       24     TAT-TGT      Tyr-Cys       Pobedimskaya D.D.,1994a
       24     TAT-CAT      Tyr-His       Groff
P.,1989  
       26     GCG-GAG      Ala-Glu       Zeng
Y.,1982
       27     GAG-GAT      Glu-Asp       Harano
T.,1988   
                                         Zhao
W.,1990 
       27     GAG-GGG      Glu-Gly       Carstairs
K.C.,1985      
                                         Schneider
R.G.,1971
       27     GAG-AAG      Glu-Lys       Liang
C.,1981
       27     GAG-GGG      Glu-Val       Cash
F.E.,1989  
       30     GAG-CAG      Glu-Gln       Vettore
L.,1974
                                         Kilinc
Y.,1985     
                                         Martin
G.,1990   
                                         Schnedl
W.J.,1997
       30     GAG-AAG      Glu-Lys       Kilinc
Y.,1985      
                                         Vettore
L.,1974  
       31     AGG-AGC      Arg-Ser       De Marco
E.V.,1992    
                                         Marinucci
M.,1979
       34     CTG-CGG      Leu-Arg       Moo-Penn
W.F.,1982   
                                         Sugihara
J.,1982     
                                         Yongsuwan S.,1987
       37     CCC-CGC      Pro-Arg       Dahmane-Arbane M.,1987
       40     AAG-GAG      Lys-Glu       Harano
T.,1983c
                                         Imai
K.,1989
       40     AAG-ATG      Lys-Met       Miyashita
H.,1992  
       41     ACC-TCC(AGC) Thr-Ser       Ohba
Y.,1989 
       43     TTC-CTC      Phe-Leu       Ohba
Y.,1975   
       43     TTC-GTC      Phe-Val       Beretta
A.,1968
       44     CCG-CGG      Pro-Arg       Harano
T.,1982b
       44     CCG-CTG      Pro-Leu       Honig
G.R.,1990  
       45     CAC-CAA      His-Gln       Marinucci
M.,1980
       45     CAC-GAC      His-Asp       Bardakdjian
J.,1994
       45     CAC-CGC      His-Arg       Braconnier
F.,1977
                                         Cash
F.E.,1989
       45     CAC-CCC      His-Pro       Hamaguchi
K.,1998
       47     GAC-AAC      Asp-Asn       Rahbar
S.,1975 
       47     GAC-GCC      Asp-Ala       Nakatsuji
T.,1984
       47     GAC-GGC      Asp-Gly       Ohba
Y.,1982
       49     AGC-AGG      Ser-Arg       Szelenyi
J.G.,1980    
                                         Suarez
C.R.,1985      
                                         Ojwang
P.J.,1985
                                         Juricic
D.,1985      
       50     CAC-CGC      His-Arg       Harano
T.,1984       
                                         Baudin
V.,1987
       51     GGC-GAC      Gly-Asp       Cabannes
R.,1972   
       51     GGC-CGC      Gly-Arg       Reynolds
C.A.,1966
       53     GCC-GAC      Ala-Asp       Alberti
R.,1974
                                         Moo-Penn
W.F.,1978  
       54     CAG-GAG      Gln-Glu       Labie
D.,1966
       54     CAG-CGG      Gln-Arg       Yamaoka
K.,1960      
                                         Hanada
K.,1964a
       55     GTT-CTT      Val-Leu       Prehu
C.,1999
       56     AAG-GAG      Lys-Glu       Abramov
A.,1980
       56     AAG-ACG      Lys-Thr       Pootrakul
S.,1977
       56     AAG-AAC      Lys-Asn       Wajcman
H.,1990b
       56     AAG-ACG      Lys-Arg       Zwerdling T.,1991
       57     GGC-CGC      Gly-Arg       Rahbar
S.,1969 
       57     GGC-GAC      Gly-Asp       Ager
J.A.M.,1958
                                         Baglioni
C.,1962     
                                         Huntsman
R.G.,1963   
                                         Hanada
K.,1964b    
                                         Imamura
T.,1966 
                                         Lehmann
H.,1969
       58     CAC-CCC      His-Tyr       Gerald
P.S.,1957 
                                         Gerald
P.S.,1961       
                                         Hansen
H.A.,1960
                                         Betke
K.,1962
                                         Hayashi
A.,1964   
                                         Shimizu
A.,1965
                                         Suzuki
T.,1965
                                         Hollan
S.R.,1967
                                         Pulsinelli
P.D.,1973
       58     CAC-CAA      His-Gln       Lacan
P.,1999  
       59     GGC-GTC      Gly-Val       Nakatsuji
T.,1981
       59     GGC-GAC      Gly-Asp       Curuk
M.A.,1992  
       60     AAG-GAG      Lys-Glu       Spivak
V.A.,1981   
                                         Lacambw C.,1987
       60     AAG-AAC      Lys-Asn       Barclay
G.P.T.,1969
                                         Brimhall
B.,1974  
       61     AAG-ACG      Lys-Thr       Giordano
P.C.,1990
       63     GCC-GAC      Ala-Asp       Gonzalez
Redondo J.M.,1987      
                                         Thillet
J.,1977
       64     GAC-CAC      Asp-His       Molchanova
T.P.,1994a
                                         Schmidt
R.M.,1976       
                                         Sukumaran
P.K.,1972 
       64     GAC-AAC      Asp-Asn       Blackwell
R.Q.,1973  
                                         Bunn
H.F.,1978
       64     GAC-GGC      Asp-Gly       Jen
P.C.,1987    
                                         Li
H.J.,1990
                                         Zhou
Z.,1987
       64     GAC-TAC      Asp-Tyr       Rahbar
S.,1976 
       65     GCC-GTC      Ala-Val       Wajcman
H.,1995
       68     AAC-AAG      Asn-Lys       Molchanova
T.P.,1994a
                                         Yi-Tao Z.,1982
       68     AAC-GAC      Asn-Asp       Bilginer
A.,1984 
                                         Cotton
F.,2000
                                         Miyaji
T.,1967
       71     GCG-GAG      Ala-Glu       Colombo
B.,1974
       71     GCG-GTG      Ala-Val       Ferranti
P.,1993
       72     CAC-CGC      His-Arg       De
Weinstein B.I.,1985       
                                         Rahbar
S.,1973
       72     CAC-TAC      His-Tyr       Harano
T.,1995b  
       72     CAC-CAA      His-Gln       Giordano
P.C.,1996
       74     GAC-GGC      Asp-Gly       Orringer
E.P.,1976
                                         Molchanova
T.P.,1994a
       74     GAC-CAC      Asp-His       Zeng
F.Y.,1992   
                                         Blackwell
R.Q.,1970      
                                         Iuchi
I.,1978    
                                         Lie-Injo
L.E.,1979       
                                         Lorkin
P.A.,1970 
       74     GAC-GCC      Asp-Ala       Djoumessi
S.,1981 
                                         Lu
Y.Q.,1984
       74     GAC-AAC      Asp-Asn       Brimhall
B.,1970     
                                         Brimhall
B.,1974
                                         Hollan
S.R.,1972      
                                         Mamalaki
A.,1990 
       75     GAC-GCC      Asp-Ala       Liang
C.C.,1981      
                                         Liang
S.,1988 
       75     GAC-AAC      Asp-Asn       Ohba
Y.,1977  
       75     GAC-GGC      Asp-Gly       Iuchi
I.,1980
       75     GAC-CAC      Asp-His       Lorkin
P.A.,1970  
       75     GAC-TAC      Asp-Tyr       Nakatsuji
T.,1983
       76     ATG-ACG      Met-Thr       Shelton
J.B.,1985  
       76     ATG-AAG      Met-Lys       Shibata
S.,1981
       77     CCC-CGC      Pro-Arg       Hattori
Y.,1985
       78     AAC-CAC      Asn-His       Molchanova
T.P.,1994a
       78     AAC-GAC      Asn-Asp       Blackwell
R.Q.,1972       
                                         Wong
S.C.,1984  
       78     AAC-AAG      Asn-Lys       Costa
F.F.,1991  
                                         North
M.L.,1980
                                         Rhoda M.D.,1983    
                                         Van Ros
G.,1968
       79     GCG-GGG      Ala-Gly       Blackwell
R.Q.,1972      
                                         Wong
S.C.,1984
       79     GCG-ACG      Ala-Thr       Wajcman
H.,1995
       80     CTG-CGG      Leu-Arg       Adams
J.G.,1972  
                                         Adams
J.G.,1974
       81     TCC-TGC      Ser-Cys       Honig
G.R.,1978
       82     GCC-GAC      Ala-Asp       Winter W.P.,1978
       84     AGC-CGC(AGA) Ser-Arg       Crookston
J.H.,1969  
                                         Headlee
M.G.,1983
       85     GAC-TAC      Asp-Tyr       Fujiwara
N.,1971
       85     GAC-AAC      Asp-Asn       Cohen-Solal
M.,1975
                                         Lorkin
P.A.,1975
       86     CTG-CGG      Leu-Arg       Knuth
A.,1979
       87     CAC-CGC      His-Arg       Liu
G.Y.,1983
       87     CAC-TAC      His-Tyr       Horst
J.,1987       
                                         Ameri
A.,1999 
                                         Magio
A.,1981
                                         Mayne
E.E.,1986 
       88     GCG-TCG      Ala-Ser       Baklouti
F.,1988b
       89     CAC-CTC      His-Leu       Williamson
D.,1992
       90     AAG-ACG      Lys-Thr       Molchanova
T.P.,1994a
       90     AAG-AAC      Lys-Asn       Molchanova
T.P.,1994b
                                         Fleming
P.J.,1978
                                         Vella
F.,1970
       90     AAG-ATG      Lys-Met       Harano
T.,1982a
                                         Sugihara
J.,1983  
       91     CTT-CCT      Leu-Pro       Brennan
S.O.,1977
       92     CGG-CAG      Arg-Gln       Harano
T.,1983d
                                         Molchanova
T.P.,1994a
       92     CGG-CTG      Arg-Leu       Harano
T.,1983d
       92     CGG-TGG      Arg-Trp       Wajcman
H.,1994b
       94     GAC-GGC      Asp-Gly       Dincol
G.,1994
       94     GAC-TAC      Asp-Tyr       Abdo
M.Z.,1989
                                         Al-Awamy
B.,1985a    
                                         Nozari
G.,1977   
                                         Wajcman
H.,1972
       94     GAC-CAC      Asp-His       Schroeder
W.A.,1979
       94     GAC-AAC      Asp-Asn       Schneider
R.G.,1975
       94     GAC-GAA      Asp-Glu       Kister
J.,1995  
       94     GAC-GGC      Asp-Gly       Kister
J.,1995
       95     CCG-CGG      Pro-Arg       Molchanova
T.P.,1994a
                                         Bannister
W.h.,1972
       95     CCG-GCG      Pro-Ala       Wiltshire B.G.,1972
       95     CCG-CTG      Pro-Leu       Huisman
T.H.J.,1970
       95     CCG-TCG      Pro-Ser       De Jong
W.W.W.,1971 
       95     CCG-ACG      Pro-Thr       Wajcman
H.,1998b
       97     AAC-AAG      Asn-Lys       Dysert
P.A.,1982
       97     AAC-CAC      Asn-His       Harano
T.,1995b
       99     AAG-GAG      Lys-Glu       Langdown
J.V.,1992
      102     AGC-AGA      Ser-Arg       Molchanova
T.P.,1994a     
                                         Crookston
J.H.,1970
                                         Sciarratta
G.V.,1984
      103     CAC-CGC      His-Arg       Sciarratta
G.V.,1984
      103     CAC-CAC      His-Tyr       Lacan
P.,1999   
      110     GCC-GAC      Ala-Asp       Honig
G.R.,1981       
      110     GCC-ACC      Ala-Thr       Ohba
Y.,1990   
      111     GCC-ACC      Ala-Thr       Wajcman
H.,1995      
      111     GCC-GTC      Ala-Val       Kazanetz
E.G.,1995    
      112     CAC-GAC      His-Asp       Smith
E.W.,1958       
                                         Itano H.A.,1960 ;
                                         Bradley
T.B.,1961 ;
                                         Ostertag
W.,1972 ;
                                         Clegg
J.B.,1978 
      112     CAC-CGC      His-Arg       Beksedic
D.,1975 ;
                                         Niazi
G.A.,1975 
      113     CTC-CCC      Leu-His       Guis
M.,1985    
      114     CCC-CGC      Pro-Arg       Wajcman H.,1993 
      114     CCC-CTC      Pro-Leu       Wajcman
H.,1989b 
      114     CCC-TCC      Pro-Ser       Wajcman
H.,1993a 
      115     GCC-GAC      Ala-Asp       Gajdusek
D.C.,1967 
      116     GAG-AAG      Glu-Lys       Molchanova
T.P.,1994a ;
                                         Sansone
G.,1970 
      116     GAG-CAG      Glu-Gln       Schneider
R.G.,1980 
      116     GAG-GCG      Glu-Ala       Ohba
Y.,1978 
      120     GCG-GAG      Ala-Glu       Molchanova
T.P.,1994a ;
                                         Blackwell
R.Q.,1974 ;
                                         Kamuzora
H.,1974 
      121     GTG-ATG      Val-Met       Harano
T.,1986 
      122     CAC-CAA      His-Gln       Fleming
P.J.,1980 ;
                                         Liang
S.,1988 
      123     GCC-TCC      Ala-Ser       Kazanetz
E.G.,1995
      126     GAC-CAC      Asp-His       Bardakdjian-Michau J.,1990 ;
                                         Masala
B.,1987 ;
                                         Paglietti
E.,1998 ;
                                         Sanna M.T.,1994 
      126     GAC-GTC      Asp-Val       Hidaka
K.,1990 
      126     GAC-TAC      Asp-Tyr       Wajcman
H.,1992a 
      127     AAG-AAC      Lys-Asn       Moo-Penn
W.F.,1976 
      127     AAG-ACG      Lys-Thr       Vella
F.,1974b 
      129     CTG-CCG      Leu-Pro       Darbellay
R.,1995  
      130     GCT-GAT      Ala-Asp       Fujisawa
K.,1992 
      131     TCT-CCT      Ser-Pro       Wajcman
H.,1993c ;
                                         Wajcman
H.,1990c 
      132     GTG-GGG      Val-Gly       Wajcman
H.,1993c  
      133     AGC-CGC(AGC) Ser-Arg       Owen M.C.,1994 ;
                                         Wajcman
H.,1993b 
      135     GTG-GAG      Val-Glu       Wajcman
H.,1990a  
      136     CTG-CCG      Leu-Pro       Kleihauer E.F.,1968 
      136     CTG-ATG      Leu-Met       Bowman
J.E.,1986 
      136     CTG-CGG      Leu-Arg       Ohba
Y.,1987 
      138     TCC-CCC      Ser-Pro       McDonald
M.J.,1990 
      139     AAA-ACA      Lys-Thr       Harano
T.,1983a 
      140     TAC-CAC      Tyr-His       Wajcman
H.,1992b ;
                                         Webber
B.B.,1992 
      141     CGT-CTT      Arg-Leu       Qin.,1994 ;
                                         Mavilio
F.,1978 
      141     CGT-GGT      Arg-Gly       Martinez
G.,1978 ;
                                         Romero
M.J.,1995 
      141     CGT-AGT      Arg-Ser       Moo-Penn
W.F.,1981 ;
                                         Saenz
G.F.,1977 
      141     CGT-TGT      Arg-Cys       Shimasaki
S.,1985 
      141     CGT-CCT      Arg-Pro       Clegg
J.B.,1969 
      141     CGT-CAT      Arg-His       Poyart
C.,1976 
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                    2) сплайсинговые мутации
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 Интрон:  Донор/  :Локали-: Замена :          Литература             :
       :акцепторн.: зация :нуклеот.:                                 :
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  1        as       - 1    G - A          Curuk
M.A.,1993 
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                     3) мелкие делеции
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 Кодон :Кол-во нук-:Делетир.нуклеотиды:       Литература            :
       : леотидов  : или аминокислоты :                             :
 ---------------------------------------------------------------------
   37        3            ACC             Pobedimskaya D.D.,1994b 
 38 или 39              - thr             Girodon
E.,1992 
   50       13       GCTCTGCCCAGGT        Ayala.,1997 
 50-57       8                            Wajcman
H.,1998a 
   62                    - val            Traeger-Synodinos J.,1999 
  141                    - arg            Schiliro
G.,1982 
            24                            Wajcman
H.,1998a 
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                     4) крупные  делеции
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        Кол-во нуклеотидов:            Литература                   :
              (kb)        :                                         :
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              > 62            Hatton C.S.R.,1990

              > 39            Shalmon.,1994 
                33            Hartevald.,1997 
              > 20            Curuk M.A.,1992 
                4,2           Liang S.,1988   
                3,7           Prehu C.,2001 
               0,24           Wajcman H.,1998a 
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                     5)  инсерции
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 Экзон:Кодон:Кол-во нук-:   Нуклеотиды   :       Литература          :
      :     : леотидов  :                :                           :
 ---------------------------------------------------------------------
       37        3            GAA              Moo-Penn W.F.,1989 ;
                                               Virshup D.M.,1988 
      112       15       CACCTCCCCGCCGAG       Wajcman H.,1992c 
      118        3            ATC              Wajcman H.,1997 
      118-119                 Glu              Huisman T.H.J.,1974 ;
                                               Cleek
M.P.,1983 ;
                                               Garel
M.C.,1976 
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