Табл. F7 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 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 ------------------------------------------------------------------------- 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 --------------------------------------------------------------------------
