Табл. 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
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
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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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