Табл. S m


            Идентифицированные мутации в гене протеина S

                   1) мутации в промоторной области
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  Локализация: Замена нук- :            Литература                      :
             :   леотидов  :                                            :
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    143          C - G          Espinosa-Parrilla
Y.,2000c 
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                      2) missense  мутации
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   Кодон: Замена нук- : Замена амино- :           Литература            :
        :   леотидов  :   кислот      :                                 :
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 - 27     CTC-CAC        leu-his       Espinosa-Parrilla Y.,2000c
 - 24     GTG-GAG        val-glu       Rezende
 -  2     CGT-CCT        arg-leu       Gandrille
S.,1995
 -  1     CGT-CAT        arg-his       Gandrille
S.,1995
    9     AAA-GAA        lys-glu       Simmonds
R.E.,1996    
                                       Fujimura
H.,1998  
   26     GAA-GCA        glu-ala       Hermida
J.,1999 
                                       Gandrille
S.,1995      
                                       Simmonds
R.E.,1996
   27     GCC-GAC        ala-asp       Borgel D.
   31     TTT-TGT        phe-cys       Gandrille
S.,1995   
   35     CCG-CTG        pro-leu       Gandrille
S.,1995  
   37     ACG-ATG        thr-met       Gandrille
S.,1995
   46     GTT-CTT        val-leu       Yamazaki
T.,1997
                                       Fujimura
H.,1998   
   49     CGC-CAC        arg-his       Giri
T.K.,1999  
                                       Gandrille
S.,1995
   49     CGC-TGC        arg-cys       Rezende
   54     GGG-GAG        gly-glu       Simmonds
R.E.,1996
   54     GGG-AGG        gly-arg       Tsuda
   57     ACT-AGT        thr-ser       Espinosa-Parrilla Y.,2000b       
                                       Espinosa-Parrilla Y.,2000c
   70     AGA-AGC        arg-ser       Giri
T.K.,1999      
                                       Borgel
D.,1996a
  103     ACT-AAT        thr-asn       Giri
T.K.,2000     
                                       Gandrille
S.,1995  
  108     TGG-TGT        trp-cys       Lind
  113     TGT-TTT        cys-phe       Borgel D.
  116     GAC-GGC        asp-gly       Borgel
D.,1996a  
  120     TGC-GGC        cys-gly       Borgel
D.,1996a
  145     TGT-TAT        cys-tyr       Simmonds
R.E.,1996 
  155     AAG-GAG        lys-glu       Yamazaki
T.,1993   
                                       Shigekiyo
T.,1993     
                                       Hayashi
T.,1994
  187     TGC-AGC        cys-ser       Borgel D.
  192     AGA-AAA        arg-lys       Gandrille
S.,1995   
                                       Borgel
D.,1994   
                                       Espinosa-Parrilla Y.,2000a 
  200     TGT-TCT        cys-ser       Simmonds
R.E.,1996  
  204     GAT-GGT        asp-gly       Gandrille
S.,1995
  206     TGC-CGC        cys-arg       Borgel D.
  208     GAG-AAG        glu-lys       Gandrille
S.,1995 
  217     AAT-AGT        asn-ser       Formstone
C.J.,1995
                                       Marchetti
G.,1993 
  224     TGC-TGG        cys-trp       Gandrille
S.,1995
  224     TGC-CGC        cys-arg       Gandrille
S.,1995
  259     CTT-CCT        leu-pro       Duchemin
J.,1996 
  283     TCA-CCA        ser-pro       Simmonds
R.E.,1996  
  292     GAT-AAT        asp-asn       Borgel D.
  295     GGC-AGC        gly-ser       Fujimura
H.,1998   
  295     GGC-GTC        gly-val       Zoller
B.,1995       
                                       Simmonds
R.E.,1997 
  310     CTG-CCG        leu-pro       Mustafa
S.,1995  
  316     GGA-AGA        gly-arg       Borgel D.
  323     AAG-GAG        lys-glu       Borgel
D.,1996a
  335     GAT-AAT        asp-asn       Gandrille
S.,1995
  340     GGT-GTT        gly-val       Gomez
E.,1995 
  340     GGT-GAT        gly-asp       Simmonds
R.E.,1996
  342     TGG-CGG        trp-arg       Lind
  344     ATG-GTG        met-val       Gandrille
S.,1995 
  349     GAA-AAA        glu-lys       Espinosa-Parrilla Y.,1999
  405     CTA-CCA        leu-pro       Borgel
D.,1996a
                                       Messiaen
I.,1997
  408     TGT-AGT        cys-ser       Simmonds
R.E.,1996
  434     TGC-CGC        cys-arg       Borgel
D.,1996a
  441     GGC-TGC        gly-cys       Espinosa-Parrilla Y.,2000b       
                                       Espinosa-Parrilla Y.,1999   
  444     TAT-TGT        tyr-cys       Espinosa-Parrilla Y.,2000b    
                                       Espinosa-Parrilla Y.,1999   
  460     TCC-GCC        ser-ala       Borgel
D.,1996a
  460     TCC-CCC        ser-pro       Bertina
R.M.,1990   
  467     GTA-GGA        val-gly       Gomez
E.,1995  
  469     GTG-ATG        val-met       Borgel
D.,1996a
  474     CGT-TGT        arg-cys       Borgel
D.,1996a    
                                       Yamazaki
T.,1996  
  474                    arg-pro       Hermida
J.,1999   
  477     ACG-ATG        thr-met       Borgel D.
  484     GCC-CCC        ala-pro       Borgel D.,1996    
                                       Borgel
D.,1996b  
  485     TTG-TCG        leu-ser       Lind
  491     ACA-GCA        thr-ala       Borgel
D.,1996a
  511     TTA-TCA        leu-ser       Mustafa
S.,1995  
  518     ATA-ATG        ile-met       Espinosa-Parrilla Y.,2000b    
                                       Espinosa-Parrilla Y.,1999
                                       Espinosa-Parrilla Y.,2000c   
  520     CGG-GGG        arg-gly       Espinosa-Parrilla Y.,2000b       
                                       Espinosa-Parrilla Y.,1999   
  527     TGT-TAT        cys-tyr       Borgel D.,1996     Borgel D.,1996a
  534     CTG-CGG        leu-arg       Borgel D.,1996     Borgel D.,1996a
  543     CTG-CAG        leu-gln       Mustafa
S.,1995   
  547     ACA-GCA        thr-ala       Borgel D.
  570     ATG-ACG        met-thr       Mustafa
S.,1995
                                       Formstone
C.j.,1996   
  575     GCC-CCC        ala-pro       Formstone
C.J.,1995   
  597                    gly-asp       Hermida
J.,1999
  598     TGC-TTC        cys-phe       Burstorff
T.C.,1997 
  599     ATG-ACG        met-thr       Espinosa-Parrilla Y.,2000c
  603     ATT-AGT        ile-ser       Li
M.,1996   
  623     CAC-CCC        his-pro       Rezende
  624     TCA-TTA        ser-leu       Borgel D.
  625     TGT-CGT        cys-arg       Duchemin
J.,1996     
                                       Borgel
D.,1996a
                                       Simmonds
R.E.,1996 
  626     CCA-TCA        pro-leu       Espinosa-Parrilla Y.,2000b      
                                       Espinosa-Parrilla Y.,2000c
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                       3) nonsesnse  мутации
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   Кодон: Замена нук- : Замена амино- :           Литература            :
        :   леотидов  :     кислот    :                                 :
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  - 12     CAA-TAA       gln-ter       Borgel D.
    19     GAA-TAA       glu-ter       Espinosa-Parrilla Y.,2000c
    22     TGC-TGA       cys-ter       Gandrille
S.,1995
    62     TCA-TGA       ser-ter       Okamoto
Y.,1996  
    96     CGA-TGA       gly-ter       Espinosa-Parrilla Y.,2000c
   108     TGC-TGA       trp-ter       Espinosa-Parrilla Y.,1999  
   193     TAT-TAA       tyr-ter       Borgel
D.,1996a  
   197     TCA-TAA       ser-ter       Borgel D.
   217     CAA-TAG       asn-ter       Espinosa-Parrilla Y.,1999
   238     CAG-TAG       gln-ter       Cooper D.N.,1993   
   293     TCA-TGA       ser-ter       Espinosa-Parrilla Y.,1999   
   342     TGG-TAG       trp-ter       Borgel
D.,1996a
   368     AAA-TAA       lys-ter       Simmonds
R.E.,1996
   410     CGA-TGA       arg-ter       Pung-Amritt
P.,1999  
                                       Hermida
J.,1999
                                       Borgel
D.,1996a
                                       Mustafa
S.,1995     
                                       Andersen
B.D.,1996    
                                       Andersen
B.D.,1999       
                                       Espinosa-Parrilla Y.,2000c  
                                       Pegelow
C.H.,1992       
                                       Mahasandana
C.,1996  
   448      GGA-TGA       gly-ter      Formstone
C.J.,1995
   465      TGG-TGA       trp-ter      Burstorff
T.C.,1997      
                                       Espinosa-Parrilla Y.,2000c
   522      CAG-TAG       gln-ter      Yamazaki
T.,1995    
                                       Borgel
D.,1996a
   595      TAT-TAA       tyr-ter      Simmonds
R.E.,1996
   636      TAA-TAT       ter-tyr      Reitsma
P.H.,1994a   
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                       4) silent  мутации
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   Кодон: Замена нук- : Замена амино- :           Литература            :
        :   леотидов  :   кислот      :                                 :
 ------------------------------------------------------------------------
   30     CTG-CTC        leu-leu         Espinosa-Parrilla Y.,2000c  
   35     CCG-CCA        pro-pro         Simmonds
R.E.,1996
  303     ATC-ATT        ile-ile         Gandrille
S.,1995
  418     GGA-GGG        gly-gly         Borgel D.
  626     CCA-CCG        pro-pro         Diepstraten
C.M.,1991 
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                      5) сплайсинговые мутации
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   Интрон: Донор    :Локализация:Замена нук-:          Лмтература       :
         : акцептор :           : леотидов  :                           :
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    A                  + 4        A - G     Li
M.,1996   
    B                  - 2        A - G     Mustafa
S.,1997a  
    D                  + 1        G - A     Formstone C.J.,1995    
                                            Simmonds
R.E.,1996
    E                  + 5        G - A     Leroy-Matheron C.,1998      
                                            Gandrille S.,1995
    J                  + 1        G - A     Formstone C.J.,1995
    J                  + 3        A - C     Simmonds
R.E.,1996
    J                  + 5        G - A     Reitsma
P.H.,1994a    
                                            Mustafa
S.,1995     
                                            Mustafa
S.,1997a      
                                            Espinosa-Parrilla Y.,1999
    J                             G - A     Hermida
J.,1999 
    J                  - 1        G - T     Espinosa-Parrilla Y.,1999  
    K                  - 9        A - G     Beauchamp N.J.,1998   
    N                  - 1        G - T     Yamazaki
T.,1997  
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                         6) инсерции
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  Локализация: Кол-во нук-:   Последствия   :          Литература       :
    кодон    :  леотидов  :                 :                           :
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   - 25        1 (T)         fs    ter-4        Reitsma P.H.,1994a  
   145-147     1 (A)         fs    ter-155      Pung-Amritt P.,1999     
                                             Mahasandana C.,1990      
                                             Mahasandana C.,1996      
                                             Pung-Amritt P.,1999 
    186        1 (T)                         Duchemin J.,1996
    265        1 (T)         fs    ter 287      Burstorff T.C.,1997  
  Интрон K +   8                             Beauchamp N.J.,1998  
  экзон 12
    431        2 (AA)                        Rezende
    539        2 (TC)                        Pung-Amritt P.,1999   
    565        1 (T)          fs    ter 596     Gomez E.,1995
    578        1 (C)          fs    ter 596     Gomez E.,1995 
    588        1 (C)          fs    ter 596     Borgel D.

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                         7) делеции
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       Локализация     : Кол-во нук-:Последствия:   Литература          :
                       :  леотидов  :           :                       :
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        - 34            1 (С)        fs    ter-24    Rezende
        - 12            7 (AACAGGC)  fs    ter 43    Duchemin J.,1996  
          21            2 (TG)       fs    ter 23    Espinosa-Parrilla Y.,1999
          43            2 (AA)       fs    ter 45    Gomez E.,1994 
          44            4 (CTTA)     fs    ter 44    Borgel D.,1996a  
                                                  Duchemin J.,1996 
       45-46            1 (G)                     Espinosa-Parrilla Y.,1999
          67            1 (C)        fs    ter 69    Borgel D.,1996a
          82            1 (T)        fs    ter 91    Gandrille S.,1995  
                                                  Borgel D.,1994  
         122            1 (T)        fs    ter 126   Simmonds R.E.,1996  
       203-204          1                         Bernardi
         220            1 (G)        fs    ter 250   Formstone C.J.,1995 
         261            1 (T)        fs    ter 272   Gomez E.,1995  
         267            1 (G)        fs    ter 272   Gomez E.,1995   
         383            2 (AA)                    Espinosa-Parrilla Y.,2000c
  Интрон K + экзон 11                             Borgel D.,1996a
         449            1 (A)        fs    ter 454   Andersen B.D.,1996  
         536            1 (T)        fs    ter 551   Espinosa-Parrilla Y.,2000c
         547            2 (AC)       fs    ter 549   Formstone C.J.,1995     
                                                  Formstone C.j.,1996   
  Интрон N + экзон 15   8 (CTAATATT)              Borgel D.
         632            4 (AAAG)     fs    ter 642   Lind
         633            2 (AA)       fs    ter 656   Mustafa S.,1995
  Интрон L,M + экзон 13 15,3 kb                   Schmidel D.K.,1991 
  Экзон 7-12                                      Ploos van Amstel H.K.,1989      
                                                  Holmes Z.R.,1996   
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Смотрите также:

  • Коагуляционный протеин S. Мутации гена