Табл. DMD m


     Идентифицированные мутации в гене дистрофина (DMD) человека


                        3) missense  мутации

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       Кодон :Замена нук-:Замена амино-:        Литература             :
             :  леотидов :    кислот   :                               :
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         54    CTC-CGC     Leu-Arg            Prior
T.W.,1993a
        168    GCT-GAT     Ala-Asp            Roberts R.G.,1994  
        231    TAC-AAC     Tyr-Asn            Roberts R.G.,1994
        279    ACG-GCG     Thr-Ala            Ortiz-Lopez R.,1997  
        645    GAT-GGT     Asp-Gly            Prior
T.W.,1994b
        773    AAG-GAG     Lys-Glu            Roberts R.G.,1994
       2155    CGG-TGG     Arg-Trp            Kneppers A.L.,1995
       2910    GAG-GTG     Glu-Val            Roberts R.G.,1994
       2912    AAT-GAT     Asn-Asp            Roberts R.G.,1994
       2921    CAC-CGC     His-Arg            Roberts R.G.,1994
       3340    TGC-TAC     Cys-Tyr            Lenk
U.,1996
       3421    GCG-GTG     Ala-Val            Roberts R.G.,1994
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                       4) nonsense мутации

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       Кодон :Замена нук-:Замена амино-:        Литература             :
             :  леотидов :    кислот   :                               :
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         60    CAA-TAA     Gln-Ter            Roberts R.G.,1994
         67    GGA-TGA     Gly-Ter            Sitnik R.,1997
         85    CAG-TAG     Gln-Ter            Roberts R.G.,1994  
        105    AAA-TAA     Lys-Ter            Nigro
V.,1994
        145    CGA-TGA     Arg-Ter            Roberts R.G.,1994  
        242    CAA-TAA     Gln-Ter            Nigro
V.,1992
        250    GAA-TAA     Glu-Ter            Roberts R.G.,1994  
        354    TGG-TAG     Trp-Ter            Nigro
V.,1994
        480    GGA-TGA     Gly-Ter            Roberts R.G.,1994
        491    CAA-TAA     Gln-Ter            Kneppers A.L.,1995
        497    CAA-TAA     Gln-Ter            Roberts R.G.,1994  
        522    GGA-TGA     Gly-Ter            Prior
T.W.,1994a
        622    TCA-TGA     Ser-Ter            Nigro
V.,1994
        651    TGG-TAG     Trp-Ter            Roberts R.G.,1994
        673    CAG-TAG     Gln-Ter            Barbieri A.M.,1995
        768    CGA-TGA     Arg-Ter            Prior
T.W.,1993b 
        770    AAA-TAA     Lys-Ter            Roberts R.G.,1994   
        772    GAG-TAG     Glu-Ter            Prior
T.W.,1993b
        825    TGG-TGA     Trp-Ter            Prior
T.W.,1995
        838    CAG-TAG     Gln-Ter            Prior
T.W.,1995
        931    GAG-TAG     Glu-Ter            Roberts R.G.,1992
        993    CAA-TAA     Gln-Ter            Roberts R.G.,1994
       1041    CAA-TAA     Gln-Ter            Roberts R.G.,1994  
       1063    TGG-TAG     Trp-Ter            Roberts R.G.,1994 
       1087    CAG-TAG     Gln-Ter            Nigro
V.,1994
       1102    CAG-TAG     Gln-Ter            Barbieri A.M.,1996
       1157    GAG-TAG     Glu-Ter            Bulman D.E.,1991
       1405    CAA-TAA     Gln-Ter            Roberts R.G.,1994
       1459    CGA-TGA     Arg-Ter            Prior
T.W.,1995
       1472    CAA-TAA     Gln-Ter            Roberts R.G.,1994
       1642    TTG-TAG     Leu-Ter            Prior
T.W.,1995
       1851    CAG-TAG     Gln-Ter            Roberts R.G.,1992
       1967    CGA-TGA     Arg-Ter            Saad
F.A.,1993   
       2098    CGA-TGA     Arg-Ter            Roberts R.G.,1994
       2125    CAG-TAG     Gln-Ter            Roberts R.G.,1994
       2182    CAG-TAG     Gln-Ter            Prior
T.W.,1993c   
       2264    CAG-TAG     Gln-Ter            Roberts R.G.,1994
       2319    CAA-TAA     Gln-Ter            Roberts R.G.,1994
       2757    GAA-TAA     Glu-Ter            Prior
T.W.,1995
       2815    CAG-TAG     Gln-Ter            Prior
T.W.,1995   
       2905    CGA-TGA     Arg-Ter            Prior
T.W.,1995
       2972    CAA-TAA     Gln-Ter            Tuffery S.,1996   
       2982    CGA-TGA     Arg-Ter            Roberts R.G.,1992
       3024    TGG-TGA     Trp-Ter            Prior
T.W.,1995  
       3066    TCG-TAG     Ser-Ter            Roberts R.G.,1994
       3190    CGA-TGA     Arg-Ter            Tuffery S.,1998   
       3370    CGA-TGA     Arg-Ter            Roberts R.G.,1992
       3381    CGA-TGA     Arg-Ter            Lenk
U.,1993
       3391    CGA-TGA     Arg-Ter            Barbieri A.M.,1996 
       3493    CAG-TAG     Gln-Ter            Barbieri A.M.,1996 
       3635    CAA-TAA     Gln-Ter            Prior
T.W.,1995  
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Смотрите также:

  • Ген дистрофина. Мутации гена.