Таблица F 7 m

                    Мутации гена фактора 7 (F Vll)

                     1) промоторная область
 -------------------------------------------------------------------------
 Локали-: Замена нук-:             Литература                            :
  зация :  леотидов  :                                                   :
 -------------------------------------------------------------------------
  - 30     A - C               McVey J.H.,2001 
  - 55     C - T               Carew J.A.,2000
  - 61     T - G               Arbini A.A.,1997
  - 60     T - C               McVey J.H.,2001 
  - 94     C - G               Carew J.A.,1998 

  -401     G - T               van't Hooft
F.M.,1999
  -402     G - A               van't Hooft
F.M.,1999
 -------------------------------------------------------------------------


                     2) missense   мутации
 -------------------------------------------------------------------------
 Кодон: Замена нук-: Замена амино- :             Литература              :
      :   леотидов :     кислот    :                                     :
 -------------------------------------------------------------------------
 -60     ATG-ATC      Met-Ile       McVey
J.H.,2001
 -48     CTT-CCT      Leu-Pro       Ozawa
T.,1998
 -42     CTG-CCG      Leu-Pro       McVey
J.H.,2001
                                    Wulff
K.,2000
 -26     CTT-CCT      Leu-Pro       Ozawa
T.,1998
   1     ATG-GTG      Met-Val       McVey
J.H.,2001
   4     TTC-CTC      Phe-Leu       McVey
J.H.,2001
  13     CTG-CAG      Leu-Gln       McVey
J.H.,2001
  16     GAG-AAG      Glu-Lys       McVey
J.H.,2001
  19     GAG-CAG      Gln-Gln       McVey
J.H.,2001
  23     TCC-CCC      Ser-Pro       Peyvandi
F.,2000a  
  28                  Arg-Gly       McVey
J.H.,2001
  57     AAT-GAT      Asn-Asp       Leonard
B.J.N.,1998  
  57                  Asn-Ile       McVey
J.H.,2001
  60     TCC-CCC      Ser-Pro       McVey
J.H.,2001
  61     TGC-TTC      Cys-Phe       McVey
J.H.,2001 
  65     CTC-CCC      Leu-Pro       McVey
J.H.,2001
  68     TAT-TGT      Tyr-Cys       McVey
J.H.,2001
  79     CGG-CAG      Arg-Gln       Chaing
S.,1990   
                                    Takamija
O.,1995
  79     CGG-TGG      Arg-Trp       Takamija
O.,1993
  91     TGT-TCT      Cys-Ser       McVey
J.H.,2001
  94     GAG-GAA      Glu-Lys       McVey
J.H.,2001
  96                  Gly-Ser       McVey
J.H.,2001
  97     GGC-AGC      Gly-Ser       Bernardi
F.,1993 
  97     GGC-TGC      Gly-Cys       Bernardi
F.,1993
 100     CAG-CGG      Gln-Arg       Takamija
O.,1993   
 102                  Cys-Tyr       McVey
J.H.,2001
 110     CGC-TGC      Arg-Cys       McVey
J.H.,2001
 134     CCA-ACA      Pro-Thr       Alshinawi
C.,1996
 135     TGT-CGT      Cys-Arg       Peyvandi
F.,2000a
 137     AAA-GAA      Lys-Glu       Takamiya
O.,1993  
 152     CGA-CAA      Arg-Gln       Chaing
S.,1994
 156     GGC-GAC      Gly-Asp       McVey
J.H.,2001
 178     TGT-TAT      Cys-Tyr       Marchetti
G.,1993   
 179                  Gly-Arg       McVey
J.H.,2001
 180                  Gly-Arg       McVey
J.H.,2001  
 181     ACC-AAC      Thr-Asn       McVey
J.H.,2001
 194     TGT-TAT      Cys-Tyr       McVey
J.H.,2001
 204     CTG-CCG      Leu-Pro       McVey
J.H.,2001
 206     GCG-ACG      Ala-Thr       McVey
J.H.,2001
 223     CGG-TGG      Arg-Trp       Bernardi
F.,1996
 242     GAC-AAC      Asp-Asn       McVey
J.H.,2001
 242     GAC-CAC      Asp-His       McVey
J.H.,2001
 244     GCG-GTG      Ala-Val       Alshinawi
C.,1996     
                                    Tamary
H.,1996
 247     CGC-CAC      Arg-His       Ohiwa
M.,1994
 247     CGC-TGC      Arg-Cys       Peyvandi
F.,2000a
 252     GTG-ATG      Val-Met       McVey
J.H.,2001
 265     GAA-AAA      Glu-Lys       Bernardi
F.,1996
 281     GTC-TTC      Val-Phe       McVey
J.H.,2001
 282     AGC-CGC      Ser-Arg       Peyvandi
F.,2000a
 285     GGC-AGC      Gly-Ser       McVey
J.H.,2001
 294     GCC-GTC      Ala-Val       Bernardi
F.,1994b
                                    Arbini
A.A.,1994
 298     ATG-ATA      Met-Ile       Bernardi
F.,1994a
 298     ATG-GTG      Met-Val       Bernardi
F.,1996 
 300     CTC-ATA      Leu-Pro       McVey
J.H.,2001
 303     CCC-CGC      Pro-Arg       McVey
J.H.,2001
 303     CCC-ACC      Pro-Thr       Peyvandi
F.,2000a
 304     CGG-CAG      Arg-Gln       O'Brien
D.P.,1991
                                    Sabharwal
A.K.,1992  
                                    James
H.L.,1993a
                                    James
H.L.,1993a       
                                    Kuppuswamy
M.N.,1993
                                    Shurafa
M.S.,1995
 304     CGG-TGG      Arg-Trp       Matsushita
T.,1994   
                                    Marchetti
G.,1992      
                                    Girolami
A.,1982   
 310     TGC-TTC      Cys-Phe       Marchetti
G.,1992   
 328     TTC-TCC      Phe-Ser       Bharadwaj
D.,1996
 329     TGT-GGT      Cys-Gly       Wu W.,2000 

 329     TGT-CGT      Cys-Arg       James
H.L.,1997
 331     GGC-GAC      Gly-Asp       Zheng
D.Q.,1996  
 342     GGG-GAG      Gly-Glu       Bernardi
F.,1996
 342     GGG-AGG      Gly-Arg       Bernardi
F.,1994a
 343     GAC-CAC      Asp-His       McVey
J.H.,2001
 348     CAT-CGT      His-Arg       McVey
J.H.,2001
 348     CAT-CAA      His-Gln       Katsumi
A.,2000 
 353     CGG-CAG      Arg-Gln       Arbini
A.A.,1994
 359     ACG-ATG      Thr-Met       Arbini
A.A.,1996    
                                    Sukuragawa
N.,1997  
 363     AGC-ATC      Ser-Ile       Peyvandi
F.,2000a
 364     TGG-TGC      Trp-Cys       Peyvandi
F.,2000a
 364     TGG-         Trp-Phe       Peyvandi
F.,2000a
 375     GGG-GAG      Gly-Glu       McVey
J.H.,2001
 -------------------------------------------------------------------------

                        3) nonsense мутации
 --------------------------------------------------------------------------
 Кодон: Замена нук-: Замена амино- :             Литература              
:
      :   леотидов :     кислот    :                                     
:
 --------------------------------------------------------------------------
 -57     CAG-TAG      Gln-Ter       Chen Q.,1993
  
  61     TGC-TGA      Cys-Ter       McVey
J.H.,2001
 152     CGA-TGA      Arg-Ter       McVey
J.H.,2001
 356     TGG-TAG      Trp-Ter       Bernardi
F.,1994a
 --------------------------------------------------------------------------

                     4)  сплайсинговые мутации
 --------------------------------------------------------------------------
 Интрон: Донор/    :Локали-: Замена нук-:        Литература              
:
  IVS  : акцептор. : зация :  леотидов  :                                
:
 --------------------------------------------------------------------------
  1       as         + 5                    Peyvandi
F.,2000a
  2                  + 1                    Peyvandi
F.,2000a
  2                  + 5      G - A         McVey
J.H.,2001
  3       ds         - 1      G - A         Rosa.,1996
  4       ds         + 1      G - A         Arbini
A.A.,1996
  4       ds                  G - A         McVey
J.H.,1998
  6                  + 1                    Peyvandi
F.,2000a
  7       ds         + 7      A - G         Peyvandi
F.,2000a    
                                            Pinotti
M.,1998  
  7       ds         + 5      G - A         Pinotti
M.,1998   
 --------------------------------------------------------------------------

                             5) делеции
 --------------------------------------------------------------------------
 Кодон:Кол-во нук-:     Нуклеотиды     :         Литература              
:
      : леотидов  :                    :                                 
:
 --------------------------------------------------------------------------
  24        3             TTC                McVey
J.H.,2001
 52/53      2             CT                 Peyvandi F.,2000b   
 213-217   15       CTCAGCGAGCACGAC          McVey
J.H.,2001  
 222       17      GCGGGTGGCGCAGGTCA         Bernardi F.,1994
 259        1               C                Millar
D.S.,1992
 289        1               C                Millar
D.S.,1992
 402        1               C                Arbini
A.A.,1994
 nt9729     4             GGGT               Pinotti
M.,1998 
 -------------------------------------------------------------------------

                           6) инсерции
 --------------------------------------------------------------------------
 Кодон:Кол-во нук-:     Нуклеотиды     :         Литература              
:
      : леотидов  :                    :                                 
:
 --------------------------------------------------------------------------
 38        15       GCGAGCACGACCTCA          McVey
J.H.,2001 
 --------------------------------------------------------------------------

Ссылки: