Таблица Col IV AV m

     Идентифицированные мутации в гене коллагена IV типа альфа V

                     1) missense  мутации
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  Кодон:Замена нук-:Замена амино-:             Литература               :
       :  леотидов :   кислот    :                                      :
 ------------------------------------------------------------------------
    1     ATG-GTG    Met-Val              Renieri
A.,1996
   54     GGT-GAT    Gly-Asp              Turco
A.E.,1995 
  129     GGA-GAA    Gly-Glu              Lemmink
H.H.,1997
  129     GGA-GTA    Gly-Val              Heiskari
N.,1996
  174     GGA-CGA    Gly-Arg              Renieri
A.,1996
  177     GGT-CGT    Gly-Arg              Renieri
A.,1996
  204     GGC-GTC    Gly-Val              Knebelmann B.,1996
  216     GGG-AGG    Gly-Arg              Heiskari
N.,1996
  219     GGC-AGC    Gly-Ser              Renieri
A.,1996  
  230     GGT-CGT    Gly-Arg              Knebelmann B.,1996
  239     GGG-GAG    Gly-Glu              Knebelmann B.,1996
  264     GGT-CGT    Gly-Arg              Knebelmann B.,1996
  289     GGT-GTT    Gly-Val              Guo
C.,1995
  292     GGA-GTA    Gly-Val              Heiskari
N.,1996 
  298     GGT-AGT    Gly-Ser              Knebelmann B.,1996   
  325     GGA-GAA    Gly-Glu              Renieri
A.,1992a
  325     GGA-AGA    Gly-Arg              Knebelmann B.,1992
  365     GGG-GAG    Gly-Glu              Heiskari
N.,1996   
  371     GGA-GAA    Gly-Glu              Renieri
A.,1996 
  374     GGA-GCA    Gly-Ala              Renieri
A.,1996
  383     GGC-GAC    Gly-Asp              Kawai
S.,1996  
  400     GGA-GAA    Gly-Glu              Boye
E.,1995
  406     GGT-GTT    Gly-Val              Boye
E.,1995 
  409     GGT-GAT    Gly-Asp              Renieri
A.,1996 
  412     GGA-GTA    Gly-Val              Knebelmann B.,1996
  420     GGA-GAA    Gly-Glu              Knebelmann B.,1996
  423     GGA-GAA    Gly-Glu              Knebelmann B.,1996
  444     ATT-AGT    Ile-Ser              Kawai
S.,1996
  466     GGA-GAA    Gly-Glu              Kawai
S.,1996  
  491     GGG-GAG    Gly-Glu              Knebelmann B.,1996  
  494     GGT-GAT    Gly-Asp              Renieri
A.,1996
  497     GGT-TGT    Gly-Cys              Knebelmann B.,1996
  521     GGT-TGT    Gly-Cys              Zhou
J.,1992a
  524     GGT-GAT    Gly-Asp              Knebelmann B.,1996 
  567     GGA-GCA    Gly-Ala              Renieri
A.,1996
  609     GGT-GTT    Gly-Val              Kawai
S.,1996
  609     GGT-CGT    Gly-Arg              Knebelmann B.,1996
  621     GGT-TGT    Gly-Cys              Knebelmann B.,1996
  632     GGT-GAT    Gly-Asp              Knebelmann B.,1996 
  638     GGT-GCT    Gly-Ala              Boye
E.,1995
  638     GGT-GTT    Gly-Val              Boye
E.,1995 
  653     GGG-AGG    Gly-Arg              Boye
E.,1995 
  681     GGT-GAT    Gly-Asp              Knebelmann B.,1996  
  684     GGA-GTA    Gly-Val              Kawai
S.,1996
  740     GGG-GAG    Gly-Glu              Kawai
S.,1996
  772     GGT-GAT    Gly-Asp              Kawai
S.,1996  
  796     GGA-AGA    Gly-Arg              Boye
E.,1995  
  802     GGA-AGA    Gly-Arg              Knebelmann B.,1996  
  811     GGA-GTA    Gly-Val              Knebelmann B.,1996   
  852     GGA-AGA    Gly-Arg              Kawai
S.,1996  
  866     GGG-GAG    Gly-Glu              Renieri
A.,1996
  869     GGA-AGA    Gly-Arg              Boye
E.,1995
  872     GGT-CGT    Gly-Arg              Boye
E.,1995
  953     GGA-GTA    Gly-Val              Knebelmann B.,1996  
 1015     GGA-GAA    Gly-Glu              Knebelmann B.,1996   
 1015     GGA-GTA    Gly-Val              Knebelmann B.,1996 
 1036     GGG-GTG    Gly-Val              Knebelmann B.,1996
 1039     GGT-AGT    Gly-Ser              Knebelmann B.,1996
 1066     GGT-CGT    Gly-Arg              Knebelmann B.,1996
 1104     GGT-GTT    Gly-Val              Kawai
S.,1996  
 1143     GGC-GAC    Gly-Asp              Zhou
J.,1992b
 1143     GGC-AGC    Gly-Ser              Renieri
A.,1994b
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                     2) nonsense  мутации
 ------------------------------------------------------------------------
  Кодон:Замена нук-:Замена амино-:             Литература               :
       :  леотидов :   кислот    :                                      :
 ------------------------------------------------------------------------
  287     GAG-TAG    Glu-Ter              Heiskari
N.,1996
  325     GGA-TGA    Gly-Ter              Kawai
S.,1996
  373     CGA-TGA    Arg-Ter              Renieri
A.,1996
 1016     CAG-TAG    Gln-Ter              Knebelmann B.,1996
 1057     GGA-TGA    Gly-Ter              Knebelmann B.,1996 
 1071     TCA-TGA    Ser-Ter              Lemmink
H.H.,1997
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