Таблица C m

            Идентифицированные мутации в гене протеина  C

                 1) мутации в промоторной области
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     Номер   : Замена нук- :              Литература                   :
  нуклеотида :   леотидов  :                                           :
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    - 1533        A - G            Greengard J.S.,1994
    - 1528        T - A            Poort
S.R.,1993 
    - 1515        T - C            Berg
L.P.,1993 
    - 1511        C - T            Greengard J.S.,1994
    - 1480        G - A            Soria J.M.,1994
      - 17        G - C            Soria J.M.,1994
      - 14        T - C            Berg
L.P.,1994
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                       2) missense  мутации
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 Экзон: Кодон :Замена нук-:Замена амино-:        Литература            :
      :       : леотидов  :   кислот    :                              :
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   2    - 42     ATG-ACG     met-thr       Zheng
Y.Z.,1994 
   2    - 40     CAG-CCG     gln-pro       Gandrille
S.,1994
   2    - 34     CTG-CCG     leu-pro       Gandrille
S.,1994
   2    - 29     TGG-GGG     trp-gly       Poort
S.R.,1993
   3    - 17     GTG-ATG     val-met       Long
G.L.,1994
   3    - 11     CGT-TGT     arg-cys       Ireland
H.,1993
   3    -  5     CGG-TGG     arg-trp       Gandrille
S.,1993d 
   3    -  3     CGC-TGC     arg-cys       Gandrille
S.,1994
   3    -  1     CGT-TGT     arg-cys       Gandrille
S.,1993d
                                           Gandrille
S.,1992
                                           Girolami
A.,1993
   3    -  1     CGT-CAT     arg-his       Gandrille
S.,1991a
                                           Lind
B.,1993b
   3       9     CGT-TGT     arg-cys       Sala
N.,1991
   3      12     AGC-TGC     ser-cys       Tait R.C.,1994
   3      12     CGG-TGG     arg-trp       Matsuda
M.,1988
   3      15     CGG-TGG     arg-trp       Lind
B.,1993b
                                           Gandrille
S.,1991b 
   3      15     CGG-GGG     arg-gly       Mimuro
J.,1993
   3      15     CGG-CAG     arg-gln       Gandrille
S.,1991b
   3      20     GAG-GCG     glu-ala       Bovill
E.G.,1992 
   3      25     GAG-CAG     glu-gln       Long
G.L.,1994
   3      25     GAG-AAG     glu-lys       Ido
M.,1993 
   3      34     GTG-ATG     val-met       Bovill
E.G.,1992
   4      40     TTC-TTA     phe-leu       Gandrille
S.,1994
   5      47     GGT-TGT     gly-cys       Grundy C.B.,1994
   5      54     CCC-TCT     pro-ser       Soria
J.M.,1994a
   5      66     CAC-AAC     his-asn       Tsay
W.,1991
   5      67     GGC-CGC     gly-arg       Poort S.R.,1994
   5      72     GGC-CGC     gly-arg       Poort S.R.,1994
   5      72     GGC-TGC     gly-cys       Witt I.,1994
   5      76     TTC-CTC     phe-leu       Reitsma
P.H.,1991 
   5      78     TGC-GGC     cys-gly       Tait R.С.,1994
   5      87     CGC-CAC     arg-his       Sala
N.,1993  
   6     103     GGC-CGC     gly-arg       Greengard J.S.,1994
   6     105     TGC-TAC     cys-tyr       Reitsma
P.H.,1991 
   6     107     CAT-CCT     his-pro       Hasstedt S.J.,1998 
   6     118     TGT-TAT     cys-tyr       Long
G.L.,1994
   6     119     AGC-AGG     ser-arg       Reitsma
P.H.,1991
   6     124     TAC-TGC     tyr-cys       Estelles
A.,1984
   6     136     GCA-CCA     ala-pro       Dreyfus
M.,1991
                                           Long
G.L.,1994
   7     139     TTC-CTC     phe-leu       Tait R.C.,1994
   7     141     TGT-CGT     cys-arg       Reitsma
P.H.,1991 
   7     141     TGT-TAT     cys-tyr       Witt
I.,1994a
   7     147     CGG-TGG     arg-trp       Tsay
W.,1991
   7     152     CGC-TGC     arg-cys       Gandrille
S.,1990 
   7     168     CCG-CTG     pro-leu       Conard
J.,1992 
                                           Gandrille
S.,1991b
   7     169     CGG-TGG     arg-trp       Foster
D.C.,1985
                                           Matsuda
M.,1988
                                           Grundy
C.,1989  
                                           Ireland
H.,1993
                                           Marchetti
G.,1993  
                                           Witt
I.,1994a
                                           Lensing
A.W.A.,1999 
                                           Alhenc-Gelas M.,2000 
   7    169      CGG-CAG     arg-gln       Poort
S.R.,1993
   7    178      CGG-TGG     arg-trp       Reitsma
P.H.,1991
                                           Sala
N.,1991
                                            
   7    178      CGG-CAG     arg-gln       Grundy
C.B.,1992a
                                           Gandrille
S.,1990   
                                           Gandrille
S.,1991b  
                                           Gandrille
S.,1993d  
                                           Poort
S.R.,1993
                                           Sala
N.,1991  
                                           Soria J.M.,1992   
                                           Soria J.M.,1996 
   7    184      CAG-CAC     gln-his       Soria
J.M.,1994b  
                                           Lind
B.,1993a
   8    197      GGG-GAG     gly-glu       Gandrille
S.,1994
   8    201      ATC-ACC     ile-thr       Greengard J.S.,1994
   8    202      CAC-TAC     his-tyr       Poort
S.R.,1993
   8    211      CAC-CAA     his-gln       Poort
S.R.,1993
                                           Witt
I.,1994a
   8    223      CTT-TTT     leu-phe       Reitsma
P.H.,1991  
                                           Gandrille
S.,1993a  
                                           Gandrille
S.,1991b
   9    225      GAG-CAG     glu-gln       Witt I.,1994
   9    229      CGG-TGG     arg-trp       Sala
N.,1991
   9    229      CGG-CAG     arg-gln       Gandrille
S.,1991c  
                                           Grundy
C.B.,1992a  
                                           Gaussem
P.,1994
   9    230      CGC-TGC     arg-cys       Broekmans A.W.,1983   
                                           Reitsma
P.H.,1991
                                           Bertina R.M.,1982 
   9    232      GAG-AAG     glu-lys       Gandrille
S.,1994
   9    247      CCC-CTC     pro-leu       Grundy
C.B.,1992a 
   9    252      AGC-AAC     ser-asn       Tsay
W.,1991  
                                           Gandrille
S.,1991c     
                                           Gaussem
P.,1994
   9    256      AAT-GAT     asn-asp       Poort S.R.,1994
   9    259      GCA-GTA     ala-val       Grundy C.B.,1991b 
   9    267      GCC-ACC     ala-thr       Conard
J.,1992 
   9    270      TCG-CCG     ser-pro       Gandrille
S.,1993e
   9    270      TCG-TTG     ser-leu       Poort S.R.,1994
   9    279      CCG-TCG     pro-ser       Tait R.C.,1994
   9    279      CCG-CTG     pro-leu       Poort
S.R.,1993
   9    282      GGC-AGC     gly-ser       Doig R.G.,1994
   9    282      GGC-CGC     gly-arg       Lind
B.,1993b
   9    286      CGC-TGC     arg-cys       Poort
S.R.,1993
                                           Lind
B.,1993b
   9    286      GGC-CAC     arg-his       Long
G.L.,1994
   9    292      GGC-AGC     gly-ser       Reitsma
P.H.,1991 
                                           Yamamoto
K.,1992a
   9    293      CAG-CAC     gln-his       Gandrille
S.,1994
   9    297      GTG-ATG     val-met       Millar D.S.,1993
   9    298      ACG-ATG     thr-met       Bovill E.G.,1989   
                                           Tomczak
J.A.,1994 
                                           Ireland
H.,1993
   9    298      ACG-AAG     thr-lys       Gandrille
S.,1994
   9    301      GGC-AGC     gly-ser       Conard
J.,1992 
   9    301      GGC-GTC     gly-val       Tait R.C.,1994
   9    314      CGC-TGC     arg-cys       Witt
I.,1994a
   9    318      CTC-TTC     leu-phe       Gandrille
S.,1994
   9    323      ATT-TTT     ile-phe       Gandrille
S.,1994
   9    325      GTG-GCG     val-ala       Witt
I.,1994a 
                                           Witt I.,1994b 
   9    327      CCG-CTG     pro-leu       Lind
B.,1993b   
                                           Zheng
Y.Z.,1994
   9    342      AAC-AGC     asn-ser       Witt I.,1994
   9    343      ATG-ATA     met-ile       Poort
S.R.,1993
   9    346      GCG-ACG     ala-thr       Poort
S.R.,1993
   9    346      GCG-GTG     ala-val       Poort
S.R.,1993
   9    350      GGG-AGG     gly-arg       Zheng
Y.Z.,1994
   9    352      CGG-TGG     arg-trp       Rintelen
C.,2001
   9    359      GAC-AAC     asp-asn       Zheng
Y.Z.,1994
   9    364      ATG-ATA     met-ile       Yamamoto
K.,1992a
   9    371      ACC-GCC     thr-ala       Tait R.C.,1994
   9    376      GGC-GAC     gly-asp       Sugahara
Y.,1992
        380                                Levo A.,2000 
   9    381      GGT-AGT     gly-ser       Marchetti
G.,1993 

   9    382      GAG-AAG     glu-lys      Koster T.,1994
   9    383      GGC-TGC     gly-cys      Sala
N.,1993      
                                          Sala
N.,1987 
   9    384      TGT-TAT     cys-tyr      Greengard J.S.,1994
   9    385      GGG-CGG     gly-arg      Miyata T.,1994  
   9    391      GGC-AGC     gly-ser      Sala
N.,1993  
   9    393      TAC-AAC     tyr-asn      Witt I.,1994
   9    394      ACC-CCC     thr-pro      Soria J.M.,1994
   9    394      ACC-AAC     thr-asn      Ireland
H.,1993
   9    398      CGC-CAC     arg-his      Tait R.C.,1994
   9    399      TAC-TCC     tyr-his      Zheng
Y.Z.,1994 
   9    402      TGG-TGC     trp-cys      Romeo
G.,1987    
                                          Gonzalez
R.,1985
   9    403      ATC-CTC     ile-leu      Gandrille
S.,1994
   9    403      ATC-AT      ile-met      Reitsma
P.H.,1991    
                                          Gandrille
S.,1993a      
                                          Gandrille
S.,1993b  
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                         3) nonsense   мутации
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  Экзон : Кодон :Замена нук-:Замена амино-:       Литература            :
        :       : леотидов  :   кислот    :                             :
 ------------------------------------------------------------------------
   2     - 29      TGG-TAG       trp-ter      Griffin J.H.,1981   
   5       49      CAG-TAG       gln-ter      Soria
J.M.,1994a
   5       92      GAG-TAG       glu-ter      Poort S.R.,1995
   6      105      TGC-TAC       cys-ter      Reitsma P.H.,1991
   6      132      CAG-TAG       gln-ter      Reitsma P.H.,1991       
                                              Estelles A.,1984
   7      145      TGG-TAG       trp-ter      Greengard J.S.,1994
   7      157      CGA-TGA       arg-ter      Gandrille S.,1990       
                                              Gandrille S.,1991b   
   9      306      CGA-TGA       arg-ter      Romeo
G.,1987   
                                              Reitsma P.H.,1991   
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                         4) silent  мутации
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  Экзон : Кодон :Замена нук-:Замена амино-:        Литература           :
        :       : леотидов  :   кислот    :                             :
 ------------------------------------------------------------------------
   7     178      CGG-CGA    arg-arg       Reitsma
P.H.,1991  
   7     184      CAG-CAA    gln-gln       Poort S.R.,1994
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                     5) сплайсинговые мутации
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 Номер:Интрон:Замена:Донор/акцеп-:             Литература               :
 нукл.:      : нукл.:тор.участок :                                      :
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 - 93   A     C - T                          Tomczak
J.A.,1994
 - 26   A     C - T      as                  Tait R.C.,1994
   74   B     A - G      ds                  Gandrille S.,1994
 1317   B     C - T   3' конец               Long
G.L.,1994
 1503   C     A - G                          Soria J.M.,1994
 3052   D     T - G                          Tomczak
J.A.,1994
 3076   D     G - A      as                  Tait R.C.,1994
 3222   E     G - A      ds                  Reitsma
P.H.,1991  
 3222   E     G - A      ds                  Gandrille S.,1994
 3222   E     G - T      ds                  Reitsma
P.H.,1991   
 3222   E     G - C      ds                  Reitsma
P.H.,1991  
 3318   E     A - G      as                  Soria J.M.,1993a   
 6274   G     C - T      ds                  Tsuda S.,1991       
                                             Soria J.M.,1992       
                                             Soria J.M.,1993b       
                                             Sala
N.,1987   
 7054         G - A                          Soria J.M.,1993b   
 7257   H     G - T      ds                  Gandrille S.,1994
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                         6) делеции
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  Локализация:Кол-во нук-:Делеция амино-:        Литература             :
             :  леотидов :    кислот    :                               :
 ------------------------------------------------------------------------
 1380-1386       7       - arg,lys              Sala
N.,1991  
                           fs  ter-16

 3156-3170      15       -gly,ile,gly,          Lind
B.,1993a
                          ser,phe

 3172-3189      18       -ser,cys,asp,          Tsuda S.,1991    
                          cys,arg,ser           Miletich J.P.,1987
 3173-3190      18       -cys,asp,cys,          Tsuda S.,1991       
                          arg,ser,gly           Miletich J.P.,1987  

 3448-3452       5       -pro,ala               Sugahara Y.,1992 

 6153            1        fs,ter-115            Grundy C.,1991a   

 8485/6 или      2        fs,258ile-arg,        Gandrille S.,1994
 8486/7                   ter-329

 8617            1        fs,-301gly,           Bernardi F.,1992   
                          ter-335

 8678-8680 или   3       -321 ile               Gandrille S.,1993c   
 8677-8679
 8678-8680       3        -321ile,lys-met       Sala N.,1991

 8801            1         fs,362gly-gly,       Greengard J.S.,1994 
                           ter-381

 8857            1         fs,381gly-val,       Yamamoto K.,1992b;
                           ter-462              Tokunaga F.,1992;
                                                Ido
M.,1993 
------------------------------------------------------------------------
                        7) инсерции
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 Локализация  :Кол-во нук-: Последствия :        Литература             :
              :  леотидов :             :                               :
 ------------------------------------------------------------------------
   3363/4      1 (+C)      fs,107his-pro,      Bovill E.G.,1989 ;
                           ter-119             Tomczak J.A.,1994 

   6139        2 (+TT)     fs,143arg-leu,      Soria
J.M.,1992 
                           ter-156

   7158        1 (+A)      fs,191lys-lys,     Poort S.R.,1994
                           ter-207

   8432        6(+CTGGAC)  239(+lys,asp)       Poort
S.R.,1993 


   8505        3(+TGG)     264(+val)          Koster T.,1994 

   8506        4(+TGGC)    fs,264,ala-ala,    Koster T.,1994
                           ter-331
         
   8796/7/8/9- 1(+G)       fs,363pro-ala      Gandrille S.,1994
   8801/2
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                    8) делеции + инсерции
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  Локализация:Делетир.нук-:Инсецир.нук-:         Литература             :
             :  леотиды   :   леотиды  :                                :
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  3351        - CGGC       + A           Berg
L.P.,1993 
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