Табл. Col I AI m


      Идентифицированные мутации в гене COL I AI человека

                   1) в регуляторной области
 --------------------------------------------------------------------
  Нуклеотид: Замена нуклеотидов :            Литература             :
 --------------------------------------------------------------------
   + 2046        G - T                   Grant
S.F.A.,1996
 --------------------------------------------------------------------

                   2)  missense  мутации
  --------------------------------------------------------------------
      Кодон :Замена нук-:Замена амино-:        Литература            :
            :  леотидов :    кислот   :                              :
  --------------------------------------------------------------------
         13    GGC-GCC     Gly-Ala           Mayer
S.A.,1996
         43    GGT-TGT     Gly-Cys           Shapiro J.R.,1992
         46    GGT-TGT     Gly-Cys           Byers
P.H.,1991
         79    GGA-AGA     Gly-Arg           Redford-Badwal D.A.,1996
         85    GGA-GTA     Gly-Val           Valli
M.,1993a
         85    GGA-AGA     Gly-Arg           Deak
S.B.,1991
         97    GGT-GAT     Gly-Asp           Lightfoot S.J.,1992
        154    GGG-AGG     Gly-Arg           Pruchno C.J.,1991
                                             Zhuang
J.,1996  
        172    GGT-CGT     Gly-Arg           MacKay
K.,1994
        175    GGT-TGT     Gly-Cys           Wirtz
M.K.,1993
        178    GGT-TGT     Gly-Cys           Valli
M.,1991
        205    GGC-TGC     Gly-Cys           Byers
P.H.,1990
        220    GGT-GCT     Gly-Ala           Sarafova A.P.,1998
        223    GGT-TGT     Gly-Cys           Byers
P.H.,1990
        244    GGC-TGC     Gly-Cys           Fertala A.,1993
        247    GGC-AGC     Gly-Ser           Mackay
K.,1993a
        256    GGT-GTT     Gly-Val           Patterson E.,1989
        298    GGA-CGA     Gly-Arg           Byers
P.H.,1991
        349    GGT-TGT     Gly-Cys           Sarafova A.P.,1998  
        352    GGT-AGT     Gly-Ser           Bateman J.F.,1992
        382    GGT-AGT     Gly-Ser           Mackay
K.,1993a
        382    GGT-TGT     Gly-Cys           Byers
P.H.,1990
        391                Arg-Gly           Bateman J.F.,1987
        415    GGC-AGC     Gly-Ser           Bateman J.F.,1992
                                             Mottes
M.,1993
        415    GGC-TGC     Gly-Cys           Nicholls A.C.,1991
        523    GGT-TGT     Gly-Cys           Sarafova A.P.,1998
        541    GGT-GAT     Gly-Asp           Zhuang
J.,1991
        541    GGT-AGT     Gly-Ser           Mackay
K.,1993a
        550    GGA-AGA     Gly-Arg           Wallis
G.A.,1990
        565    GGT-GTT     Gly-Val           Mackay
K.,1993b
        565    GGT-AGT     Gly-Ser           Bateman J.F.,1992
        586    GGT-GTT     Gly-Val           Lund
A.M.,1997a
        589    GGC-AGC     Gly-Ser           Forlino A.,1994
        598    GGT-AGT     Gly-Ser           Westerhausen A.,1990
        618    CGT-CAT     Arg-His           Superti-Furga A.,1994
        631    GGC-AGC     Gly-Ser           Westerhausen A.,1990
        637    GGC-GTC     Gly-Val           Tsuneyoshi T.,1991
        643    GGC-AGC     Gly-Ser           Lund
A.M.,1997b
        661    GGT-AGT     Gly-Ser           Nuytinck L.,1996
        667    GGA-AGA     Gly-Arg           Bateman J.F.,1988
        691    GGT-TGT     Gly-Cys           Steinmann B.,1991
        748    GGT-TGT     Gly-Cys           Vogel
B.E.,1987
                                             Vogel
B.E.,1988
        802    GGT-GTT     Gly-Val           Bonaventure J.,1992
        832    GGT-AGT     Gly-Ser           Marini
J.C.,1989
        844    GGT-GTT     Gly-Val           Korkko
J.,1997
        844    GGT-AGT     Gly-Ser           Pack
M.,1989
        847    GGA-AGA     Gly-Arg           Wallis
G.A.,1990
        859    GGT-AGT     Gly-Ser           Rose
N.J.,1994
        862    GGC-AGC     Gly-Ser           Virdi
A.S.,1994
                                             Namikawa C.,1995
        871    GGT-AGT     Gly-Ser           Lund
A.M.,1997b
        880    GGC-AGC     Gly-Ser           Lund
A.M.,1997b
        883    GGC-GAC     Gly-Asp           Cohn
D.H.,1990a
        883    GGC-AGC     Gly-Ser           Lightfoot S.J.,1994
        898    GGT-AGT     Gly-Ser           Lund
A.M.,1997b
        901    GGC-AGC     Gly-Ser           Mottes
M.,1992
        904    GGC-TGC     Gly-Cys           Constantinou C.D.,1989
                                             Constantinou C.D.,1990
        910    GGA-GCA     Gly-Ala           Valli
M.,1993b
        913    GGC-AGC     Gly-Ser           Cohn
D.H.,1990b  
        928    GGC-GCC     Gly-Ala           Lamande S.R.,1989
        946    GGC-TGC     Gly-Cys           Kurosaka D.,1994
        964    GGT-AGT     Gly-Ser           Wallis
G.A.,1989
        973    GGC-GTC     Gly-Val           Lamande S.R.,1989
        973    GGC-AGC     Gly-Ser           Korkko
J.,1997
        976    GGA-AGA     Gly-Arg           Lamande S.R.,1989
        988    GGT-TGT     Gly-Cys           Cohn
D.H.,1986  
       1003    GGC-AGC     Gly-Ser           Pruchno C.J.,1991
       1006    GGA-GTA     Gly-Val           Lamande S.R.,1989
       1009    GGT-GTT     Gly-Val           Cohn
D.H.,1990b
       1009    GGT-AGT     Gly-Ser           Cohn
D.H.,1990b
       1017    GGT-TGT     Gly-Cys           Labhard M.E.,1988
       1099    GAC-CAC     Asp-His           Chessler S.D.,1993
       1134    TGG-TGT     Trp-Cys           Bateman J.F.,1993
       1210    CTG-CGG     Leu-Arg           Chessler S.D.,1993
       1286    CTG-CCG     Leu-Pro           Oliver
J.E.,1996
  --------------------------------------------------------------------

                       3) nonsense мутации
  --------------------------------------------------------------------
      Кодон  :Замена нук-:Замена амино-:        Литература           :
             :  леотидов :    кислот   :                             :
  --------------------------------------------------------------------
         42    CGA-TGA     Arg-Ter         Korkko
J.,1998
        183    CGA-TGA     Arg-Ter         Korkko
J.,1998
        237    CGA-TGA     Arg-Ter         Willing
M.C.,1996
        519    CGA-TGA     Arg-Ter         Willing
M.C.,1996
        963    CGA-TGA     Arg-Ter         Willing
M.C.,1994
  ---------------------------------------------------------------------

Смотрите также:

  • Col I AI и Col I AII Гены: мутации