Таблица F 7 m

Мутации гена фактора 7 (F Vll)

1) промоторная область  
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Локали-: Замена нук-:             Литература                            :
 зация :  леотидов  :                                                   : 

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- 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
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2) missense   мутации  
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Кодон: Замена нук-: Замена амино- :             Литература              :
     :   леотидов :     кислот    :                                     : 

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-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
191                  Ala-Thr       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.,1993c;
                                   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
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3) nonsense мутации  
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 Кодон: Замена нук-: Замена амино- :           Литература               :
      :   леотидов :     кислот    :                                    : 

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  -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
 
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4)  сплайсинговые мутации  
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  Интрон: Донор/    :Локали-: Замена нук-:        Литература              
:
   IVS  : акцептор. : зация :  леотидов  :                                
:  
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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
 
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5) делеции  
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  Кодон:Кол-во нук-:     Нуклеотиды     :         Литература              
:
       : леотидов  :                    :                                 
:  
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   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
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6) инсерции  
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 Кодон:Кол-во нук-:     Нуклеотиды     :         Литература              
:
      : леотидов  :                    :                                  :
 
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--  38        15       GCGAGCACGACCTCA          McVey J.H.,2001
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