Табл. GBA m
Идентифицированные мутации в гене глюкоцереброзидазы
(GBA) человека
1) missense мутации
------------------------------------------------------------------------
Кодон : Замена нук- :Замена амино-: Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
15 GTG-CTG Val-Leu Kim
J.W.,1996
43 ACA-ATA Thr-Ile Beutler
E.,1995a
46 GGG-GAG Gly-Glu Kim
J.W.,1996
48 CGG-TGG Arg-Trp Beutler
E.,1995a
79 AAG-AAC Lys-Asn Beutler
E.,1996a
120 CGG-CAG Arg-Gln Graves
P.N.,1988
Choy
F.Y.M.,1991
120 CGG-TGG Arg-Trp Beutler
E.,1996b
122 CCC-TCC Pro-Ser Beutler
E.,1993a
140 GAT-CAT Asp-His Eyal
N.,1991
157 AAG-CAG Lys-Gln Latham
T.E.,1991
176 GCC-GAC Ala-Asp Beutler
E.,1994a
178 CCC-TCC Pro-Ser Choy
F.Y.M.,1995
182 CCC-ACC Pro-Thr Beutler
E.,1994a
188 AAT-AGT Asn-Ser Kim
J.W.,1996
189 GGA-GTA Gly-Val Ida
H.,1997
195 GGG-GAG Gly-Glu Grace
M.E.,1997
202 GGA-AGA Gly-Arg Beutler
E.,1994a
212 TAC-CAC Tyr-His Beutler
E.,1993a
213 TTT-ATT Phe-Ile Kawame
H.,1991
216 TTC-TAC Phe-Tyr Beutler
E.,1990
216 TTC-GTC Phe-Val Horowitz M.,1994
257 CGA-CAA Arg-Gln Beutler
E.,1994a
266 CCT-CGT Pro-Arg Walley
A.J.,1995
271 AGT-AAT Ser-Asn Grace
M.E.,1997
285 CGC-TGC Arg-Cys Beutler
E.,1994a
289 CCC-CTC Pro-Leu He
G.S.,1992a
309 GCT-GTT Ala-Val Latham
T.E.,1991
312 TGG-TGT Trp-Cys Latham
T.E.,1991
313 TAC-CAC Tyr-His Cormand
B.,1996
315 GAC-CAC Asp-His Walley
A.J.,1995
318 GCT-GAT Ala-Asp Walley
A.J.,1995
323 ACC-ATC Thr-Ile He
G.S.,1992a
325 GGG-AGG Gly-Arg Eyal
N.,1990
326 GAG-AAG Glu-Lys Eyal
N.,1991
342 TGT-GGT Cys-Gly Eyal
N.,1990
352 GTG-CTG Val-Leu Grace
M.E.,1997
353 CGG-GGG Arg-Gly Parenti
G.,1998
359 CGA-CAA Arg-Gln Kawame
H.,1992
364 AGC-ACC Ser-Thr Latham
T.E.,1991
366 AGC-GGC Ser-Gly Ida
H.,1997
369 ACG-ATG Thr-Met Beutler
E.,1996a
370 AAC-AGC Asn-Ser Tsuji
S.,1988
Cormand
B.,1998
Choy
F.Y.M.,1991
Cormand
B.,1995
Sidransky E.,1994
Horowitz M.,1993
Zimran
A.,1991
Zimran
A.,1990
375 GTG-TTG Val-Leu Cormand
B.,1997
377 GGC-AGC Gly-Ser Laubscher K.H.,1994
378 TGG-GGG Trp-Gly Beutler
E.,1994a
380 GAC-GCC Asp-Ala Walley A.J.,1993
380 GAC-AAC Asp-Asn Beutler
E.,1994a
387 CCC-CTC Pro-Leu Morar
B.,1996
394 GTG-TTG Val-Leu Theophilus B.D.,1989
396 AAC-ACC Asn-Thr Amaral
O.,1996
399 GAC-AAC Asp-Asn Beutler
E.,1994b
402 ATC-ACC Ile-Thr Cormand
B.,1997
409 GAC-GTC Asp-Val Horowitz M.,1994
409 GAC-CAC Asp-His Eyal
N.,1990
Horowitz M.,1993
Cormand
B.,1995
Chabas
A.,1995
413 AAA-CAA Lys-Gln Ida
H.,1997
415 CCC-CGC Pro-Arg Wigderson M.,1989
Choy
F.Y.M.,1991
417 TTC-GTC Phe-Val Choy F.Y.M.,1994
418 TAC-TGC Tyr-Cys Tuteja.,1994
425 AAG-GAG Lys-Glu Kawame
H.,1992
433 AGA-GGA Arg-Gly Ida
H.,1997
444 CTG-CCG Leu-Pro Tsuji S.,1987
Dahl
N.,1990
Choy
F.Y.M.,1991
444 CTG-CGG Leu-Arg Uchiyama A.,1994
Sidransky E.,1994
Kawame
H.,1993
Horowitz M.,1993
Cormand
B.,1995
456 GCT-CCT Ala-Pro Latham
T.E.,1990
463 CGC-TGC Arg-Cys Hong
C.M.,1990
Choy
F.Y.M.,1991
Sidransky E.,1994
Horowitz M.,1993
Cormand
B.,1995
478 GGC-AGC Gly-Ser Beutler
E.,1993a
496 CGC-CAC Arg-His Beutler
E.,1993a
496 CGC-TGC Arg-Cys Kawame
H.,1992
Horowitz M.,1993
------------------------------------------------------------------------
2) nonsense мутации
-----------------------------------------------------------------------
Кодон : Замена нук- :Замена амино-: Литература :
: леотидов : кислот : :
-----------------------------------------------------------------------
74 AAG-TAG Lys-Ter Grace
M.E.,1997
173 TCA-TGA Ser-Ter Beutler E.,1995a
179 TGG-TAG Trp-Ter Grace
M.E.,1997
359 CGA-TGA Arg-Ter Beutler E.,1994b
414 CAG-TAG Gln-Ter Beutler E.,1996a
------------------------------------------------------------------------
3) сплайсинговые мутации
------------------------------------------------------------------------
Интрон : Донор/ :Локали-:Замена нук-: Литература :
IVS :акцепторн : зация : леотидов : :
------------------------------------------------------------------------
2 ds + 1 G - A Beutler E.,1992a
Beutler E.,1992b
He
G.S.,1992b
Sidransky E.,1994
Cormand B.,1995
10 ds - 1 G - A Ohshima T.,1993
-----------------------------------------------------------------------
4) делеции
------------------------------------------------------------------------
Кодон :Кол-во нук-: Нуклеотиды : Литература :
: леотидов : :
------------------------------------------------------------------------
41 1 C Beutler E.,1993a
17 1 C Beutler E.,1993a
138 1 C Tayebi N.,1997
265 1 C Beutler E.,1995a
444 2 AC Grace M.E.,1997
целый ген Beutler E.,1994c
------------------------------------------------------------------------
5) инсерции
------------------------------------------------------------------------
Нуклеотид:Кол-во нук-: Нуклеотиды : Литература :
: леотидов : :
------------------------------------------------------------------------
84 1 G Beutler E.,1991
Sidransky E.,1994
Horowitz M.,1993
Cormand B.,1995
1098 1 A Cormand B.,1996
------------------------------------------------------------------------
6) делеции + инсерции
------------------------------------------------------------------------
Делеция нуклеотидов : Инсерция нуклеотидов : Литература :
------------------------------------------------------------------------
20 bp 2 bp Uchiyama A.,1994
------------------------------------------------------------------------
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