Таблица Col VII AI m

       Идентифицированные мутации в гене Col VII A1 человека

                       1) missense мутации
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  Кодон :Замена нук-:Замена амино-:            Литература                 
:
        :  леотидов :   кислот    :                                       
:
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  1557     GGA-AGA    Gly-Arg             Christiano
A.M.,1996b
  1782     GGA-AGA    Gly-Arg             Christiano
A.M.,1996d
  1982     GGG-TGG    Gly-Trp             Hovnanian
A.,1997a
  2003     GGG-AGG    Gly-Arg             Christiano
A.M.,1996e
  2008     CGT-GGT    Arg-Gly             Hovnanian
A.,1997a
  2009     GGA-AGA    Gly-Arg             Winberg
J.O.,1997
  2025     GGC-GCC    Gly-Ala             Hovnanian
A.,1997a
  2034     GGG-AGG    Gly-Arg             Kon
A.,1997a
  2040     GGT-AGT    Gly-Ser             Christiano
A.M.,1994d
  2043     GGG-AGG    Gly-Arg             Christiano
A.M.,1995b
  2049     GGG-GAG    Gly-Glu             Hovnanian
A.,1997a 
  2055     GGA-GAA    Gly-Glu             Christiano
A.M.,1996b
  2063     CGG-GGG    Arg-Gly             Hovnanian
A.,1997a 
  2063     CGG-TGG    Arg-Trp             Hovnanian
A.,1997a
  2073     GGC-GAC    Gly-Asp             Dunnill
M.G.S.,1996
  2076     GGC-GAC    Gly-Asp             Kon
A.,1997a
  2079     GGA-GAA    Gly-Glu             Kon
A.,1997b  
  2242     GGG-AGG    Gly-Arg             Lee
J.Y.Y.,1997
  2351     GGA-AGA    Gly-Arg             Christiano
A.M.,1996c
  2569     GGT-CGT    Gly-Arg             Christiano
A.M.,1996b
  2575     GGG-AGG    Gly-Arg             Shimizu.,1996
  2623     GGC-TGC    Gly-Cys             Christiano
A.M.,1995c   
  2653     GGG-AGG    Gly-Arg             Christiano
A.M.,1996b
  2671     GGG-GTG    Gly-Val             Kon
A.,1997b
  2674     GGC-CGC    Gly-Arg             Christiano
A.M.,1996b  
  2749     GGA-AGA    Gly-Arg             Christiano
A.M.,1996b
  2798     ATG-AAG    Met-Lys             Christiano
A.M.,1993 
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                        2) nonsense мутации
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  Кодон :Замена нук-:Замена амино-:            Литература                 
:
        :  леотидов :   кислот    :                                       
:
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    185     CGA-TGA    Arg-Ter             Hovnanian
A.,1997a
    226     CGA-TGA    Arg-Ter             Christiano A.M.,1996f
    236     CGA-TGA    Arg-Ter             Hovnanian
A.,1994
    251     CAG-TAG    Gln-Ter             Christiano A.M.,1996a  
    281     CAG-TAG    Gln-Ter             Hovnanian
A.,1997a   
    311     TAC-TAA    Tyr-Ter             Christiano A.M.,1995a
    578     CGA-TGA    Arg-Tem             Dunnill
M.G.S.,1994 
    796     TGG-TAG    Trp-Ter             Christiano A.M.,1996a   
    796     TGG-TGA    Trp-Ter             Christiano A.M.,1994c
   1340     CGA-TGA    Arg-Ter             Hovnanian
A.,1994
   1343     CGA-TGA    Arg-Ter             Hovnanian
A.,1994 
   2216     GGA-TGA    Gly-Ter             Hovnanian
A.,1997a 
   2471     CGA-TGA    Arg-Ter             Christiano A.M.,1996b  
   2610     CGA-TGA    Arg-Ter             Hovnanian
A.,1997a
   2814     CGA-TGA    Arg-Ter             Christiano A.M.,1996a   
   2857     GAG-TAG    Glu-Ter             Shimizu.,1996 
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