Табл. G6PD m
Идентифицированные мутации в гене G6PD человека
1) missense мутации
------------------------------------------------------------------------
Нуклео-:Экзон:Кодон:Замена нук-:Замена амино-: Литература
:
тид : : : леотидов : кислот :
:
------------------------------------------------------------------------
33 C - G His-Gln Hirono A.,1988
1 14 GGG-AGG Gly-Arg Weimer T.A.,1998
3 32 CAC-CGC His-Arg Chao L.,1991
Lo
Y.S.,1994
3 33 ATA-ATG Ile-Met Hirono A.,1995
3 44 GCC-GGC Ala-Gly Kaeda J.S.,1995
3 48 ATC-ACC Ile-Thr Nafa K.,1993
Rovira A.,1995
3 53 TGG-TGC Trp-Cys Hirono A.,1995
4 57 CGG-TGG Arg-Trp Hirono A.,1995
4 58 GAT-AAT Asp-Asn Vulliamy T.J.,1988
Viglietto G.,1990
4 62 CCC-CTC Pro-Leu Kumakawa T.,1987
4 68 GTG-ATG Val-Met Vulliamy T.J.,1988
Hirono A.,1988
Viglietto G.,1990
Beutler E.,1991a
Kay A.C.,1992
Rovira A.,1995
4 70 TAT-TGT Tyr-Cys Rovira A.,1995
4 70 TAT-CAT Tyr-His Ganezakowsky M.,1995
4 75 CTC-CCC Leu-Pro Vulliamy T.J.,1993
4 81 CGC-CAC Arg-His Vulliamy T.J.,1993
4 81 CGC-TGC Arg-Cys Hirono A.,1992
Vulliamy T.J.,1993
4 106 TCC-TGC Ser-Cys Maeda M.,1992
4 113 GAT-AAT Asp-Asn Weimer T.A.,1993
4 126 AAT-GAT Asn-Asp Yoshida A.,1967
Takizawa T.,1987
Vulliamy T.J.,1988
Hirono A.,1988
Beutler E.,1991a
Kay A.C.,1992
Rovira A.,1995
5 128 CTC-CCC Leu-Pro Ganezakowsky M.,1995
5 131 GGG-GTG Gly-Val Chiu D.T.Y.,1991a
Vulliamy T.J.,1993
Lo
Y.S.,1994
5 135 AAC-ACC Asn-Thr Kaeda J.,1996
5 136 CGC-TGC Arg-Cys Zarza R.,1997
5 142 AAT-GAT Asn-Asp Yoshida A.,1967
Takizawa T.,1987
5 156 GAG-AAG Glu-Lys Vulliamy T.J.,1988
5 163 GGC-GAC Gly-Asp Vulliamy T.J.,1993
5 163 GGC-AGC Gly-Ser Vulliamy T.J.,1989
Lo
Y.S.,1994
5 165 AAC-GAC Asn-Asp Tang T.K.,1992
Lo
Y.S.,1994
5 166 CGC-CAC Arg-His Ganezakowsky M.,1995
5 172 CCC-TCT Pro-Ser Khan P.M.,1986
5 173 TTC-CTC Phe-Leu Chen H.L.,1996
Tang T.K.,1995
5 176 GAC-GGC Asp-Gly Mason P.J.,1995
6 179 AGC-TGC Ser-Cys Hirono A.,1994
6 181 GAC-GTC Asp-Val Beutler E.,1991b
Vulliamy T.J.,1993
6 182 CGG-TGG Arg-Trp Maeda M.,1992
6 188 TCC-TTC Ser-Phe Vulliamy T.J.,1988
De
Vita G.,1989
Vives Corrons J.L.,1990
Viglietto G.,1990
Rovira A.,1995
6 198 CGC-CCC Arg-Pro Beutler E.,1992a
6 198 CGC-TGC Arg-Cys Maeda M.,1992
Corcoran C.M.,1992
Lo
Y.S.,1994
6 202 G - A Beutler E.,1991a
Kay A.C.,1992
6 212 ATG-GTG Met-Val Vulliamy T.J.,1993
Calabro V.,1993
6 213 GTG-CTG Val-Leu Beutler E.,1991c
6 216 TTT-TTG Phe-Leu Poggi V.,1990
Vulliamy T.J.,1993
7 227 CGG-CAG Arg-Gln Beutler E.,1992a
7 227 CGG-CTG Arg-Leu Beutler E.,1989
7 232 TGC-TAC Cys-Tyr Takizawa T.,1984
7 238 AAG-AGG Lys-Arg Ware R.,1996
8 257 CGG-GGG Arg-Gly Beutler E.,1991c
Vulliamy T.J.,1993
8 274 GAG-AAG Glu-Lys Xu
W.,1995
8 278 TCC-TTC Ser-Phe Mason P.J.,1995
8 279 ACC-TCC Thr-Ser Vulliamy T.J.,1993
Beutler E.,1992b
Lo
Y.S.,1994
8 282 GAT-CAT Asp-His De
Vita G.,1989
Cappelini M.D.,1994b
8 285 CGT-CAT Arg-His Viglietto G.,1990
8 285 CGT-TGT Arg-Cys Hirono A.,1995
8 291 GTG-ATG Val-Met Vulliamy T.J.,1993
Beutler E.,1991c
Beutler E.,1992b
8 303 GTG-TTG Val-Leu Xu
W.,1995
8 304 GTT-TTT Val-Phe Xu
W.,1995
8 306 GGC-AGC Gly-Ser Hirono A.,1994
9 317 GAG-AAG Glu-Lys Ahluwalia A.,1992
9 323 CTG-CCG Leu-Pro Beutler E.,1989
9 326 CCC-CAC Pro-His Weimer T.A.,1998
9 335 GCC-GAC Ala-Asp Xu
W.,1995
9 335 GCC-ACC Ala-Thr Vulliamy T.J.,1988
9 342 CTC-TTC Leu-Phe Chiu D.T.Y.,1991a
Vulliamy T.J.,1993
Lo
Y.S.,1994
9 351 GGG-TGG Gly-Trp Miwa S.,1996
9 351 GGG-GTG Gly-Val Cappelini M.D.,1994
9 353 CCC-TCC Pro-Ser Beutler E.,1992a
9 363 AAC-AAA Asn-Lys Beutler E.,1991c
9 376 GAT-AAT Asp-Asn Beutler E.,1991a
Beutler E.,1991b
Kay A.C.,1992
9 380 ATC-ACC Ile-Thr Beutler E.,1995
9 380 ATC-GTC Ile-Val Beutler E.,1995
9 381 TTC-CTC Phe-Leu Xu
W.,1995
9 385 TGC-TGG Cys-Trp Zarza R.,1997
9 385 TGC-CGC Cys-Arg Hirono A.,1989
Vulliamy T.J.,1993
Rovira A.,1995
9 386 AAG-GAG Lys-Glu Hirono A.,1989
Vulliamy T.J.,1993
9 387 CGC-CAC Arg-His Hirono A.,1989
Vulliamy T.J.,1993
9 387 CGC-TGC Arg-Cys Beutler E.,1992b
Vulliamy T.J.,1993
9 389 GAG-GGG Glu-Gly Xu
W.,1995
9 393 CGC-CAC Arg-His Beutler E.,1991c
9 393 CGC-GGC Arg-Gly Beutler E.,1995
10 394 GTG-CTG Val-Leu Beutler E.,1992a
10 396 CCC-CTC Pro-Leu Filossa S.,1994
10 398 GAG-AAG Glu-Lys Beutler E.,1991b
10 398 GAG-GGG Glu-Gly Youssofian N.,1996
10 405 ATG-ATA Met-Ile Rovira A.,1995
10 410 GGC-GAC Gly-Asp Beutler E.,1992b
10 410 GGC-TGC Gly-Cys Hirono A.,1989
Vulliamy T.J.,1993
10 416 GAG-AAG Glu-Lys Hirono A.,1992
11 431 GTG-GGG Val-Gly Saad S.T.,1997
11 439 CGC-CCC Arg-Pro Beutler E.,1992a
11 440 CTC-TTC Leu-Phe Vulliamy T.J.,1988
11 447 GGG-AGG Gly-Arg Vulliamy T.J.,1988
11 448 AGC-GGC Ser-Gly Miwa S.,1996
11 449 CAG-CAC Gln-His Calabro V.,1993
12 454 CGC-CAC Arg-His Vives Corrons J.L.,1990
12 454 CGC-TGC Arg-Cys Perng L.I.,1992
Beutler E.,1992b
Rovira A.,1994
Lo
Y.S.,1994
12 459 CGT-CCT Arg-Pro Calabro V.,1993
12 459 CGT-CTT Arg-Leu Chiu D.T.Y.,1991a
Stevens D.J.,1991
Lo
Y.S.,1994
12 463 CGT-CAT Arg-His Chiu D.T.Y.,1991b
Beutler E.,1992b
Lo
Y.S.,1994
12 463 CGT-TGT Arg-Cys Nakatsuji T.,1979
13 467 CCA-CGA Pro-Arg Alfinito F.,1997
13 488 GGC-GTC Gly-Val Baronciani L.,1993
13 488 GGC-AGC Gly-Ser Hirono A.,1994
------------------------------------------------------------------------
2) nonsense мутации
------------------------------------------------------------------------
Экзон:Кодон:Замена нук-:Замена амино-: Литература
:
: : леотидов : кислот :
:
------------------------------------------------------------------------
11 428 TAC-TAA Tyr-Ter Vulliamy T.J.,1993
------------------------------------------------------------------------
3) silent мутации
------------------------------------------------------------------------
Экзон:Кодон:Замена нук-:Замена амино-: Литература
:
: : леотидов : кислот :
:
------------------------------------------------------------------------
11 437 TAC-TAT Tyr-Tyr De
Vita G.,1989
Vives
Corrons J.L.,1990
Viglietto G.,1990
Kay
A.C.,1992
------------------------------------------------------------------------
4) делеции
------------------------------------------------------------------------
Экзон: Кодон : Делеция нук-:Делеция амино-: Литература
:
: : леотидов : кислот :
:
------------------------------------------------------------------------
2 35 CAT ile Mac Donald D.,1991
Vulliamy T.J.,1993
4 93 AG Hirono A.,1995
6 186 CTC leu Hirono A.,1995
6 188-189 ser Hirono A.,1995
Vulliamy T.J.,1988
Beutler E.,1990
7 242-243 GGCACT gly,thr Vulliamy T.J.,1993
Xu
W.,1995
nt 953-957 319-326 Hirono A.,1993
------------------------------------------------------------------------
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