Табл. Col I AII m


     Идентифицированные мутации в гене COL I AII человека

                    1) missense  мутации
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  Экзон:Кодон:Замена нук-:Замена амино-:        Литература           :
       :     :  леотидов :    кислот   :                             :
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        121    GGT-GAT     Gly-Asp            Zhuang J.,1996   
        238    GGT-AGT     Gly-Ser            Rose
N.J.,1995
        247    GGT-AGT     Gly-Ser            Zhuang J.,1996
        247    GGT-TGT     Gly-Cys            Korkko J.,1997
        259    GGT-TGT     Gly-Cys            Wenstrup R.J.,1991
        343    GGA-GAA     Gly-Glu            Rose
N.J.,1993
        370    GGC-AGC     Gly-Ser            Zhuang J.,1996
        457    GGT-CGT     Gly-Arg            Bateman J.F.,1992
        472    GGT-TGT     Gly-Cys            Edwards M.J.,1992
        502    GGT-AGT     Gly-Ser            Rose
N.J.,1994b
        544    GGT-GTT     Gly-Val            Sztrolovics R.,1993   
        547    GGT-GAT     Gly-Asp            Bonadio J.,1988
        580    GGC-GAC     Gly-Asp            Niyibizi C.,1992
        586    GGT-GTT     Gly-Val            Bateman J.F.,1991 ;
                                              Lund
A.M.,1997 ;
                                              Cole
W.G.,1996
        618    CGG-CAG     Arg-Gln            Phillips C.L.,1990  
        646    GGT-TGT     Gly-Cys            Wenstrup R.J.,1991
        661    GGT-AGT     Gly-Ser            Spotila L.D.,1991
                                              Nuytinck L.,1996
        676    GGT-GTT     Gly-Val            Wang
Q.,1993
        688    GGT-AGT     Gly-Ser            Raghunath M.,1995
        694    GGT-CGT     Gly-Arg            Tsuneyoshi T.,1991
        700    GGT-GAT     Gly-Asp            Cohen-Solal L.,1994
        706    GGT-AGT     Gly-Ser            Wang
Q.,1993
        745    GGT-AGT     Gly-Ser            Zhuang J.,1996
        751    GGC-AGC     Gly-Ser            De
Paepe A.,1997   
        787    GGC-TGC     Gly-Cys            Fertala A.,1993
        802    GGT-GAT     Gly-Asp            Lund
A.M.,1996b
        805    GGT-GAT     Gly-Asp            Grande D.K.,1990
        859    GGT-AGT     Gly-Ser            Rose
N.J.,1994a
        865    GGT-AGT     Gly-Ser            Bateman J.F.,1993
        907    GGT-GAT     Gly-Asp            Baldwin C.T.,1989
        922    GGT-AGT     Gly-Ser            Marini J.C.,1993
        976    GGT-GAT     Gly-Asp            Byers
P.H.,1990
       1006    GGC-GCC     Gly-Ala            Lu
J.,1995 
       1012    GGT-CGT     Gly-Arg            Wenstrup R.J.,1988
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Смотрите также:

  • Col I AI и Col I AII Гены: мутации