Табл. GLA m
Идентифицированные мутации в гене альфа-галактозидазы А
1) missense мутации
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Кодон:Замена нук-:Замена амино-: Литература
:
: леотидов : кислот :
:
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1 ATG-ATA Met-Ile Blanch
L.C.,1996
20 GCC-CCC Ala-Pro Nakao
S.,1995
32 CTG-CCG Leu-Pro Madsen
K.M.,1995
34 AAT-AGT Asn-Ser Eng C.M.,1993
35 GGA-AGA Gly-Arg Davies
J.P.,1994
40 CCT-TCT Pro-Ser Koide
T.,1990
42 ATG-GTG Met-Val Davies
J.P.,1996
49 CGC-CTC Arg-Leu Davies
J.P.,1994
49 CGC-AGC Arg-Ser Davies
J.P.,1996
52 TGC-TCC Cys-Ser Eng
C.M.,1994a
52 TGC-CGC Cys-Arg Blanch
L.C.,1996
56 TGC-TAC Cys-Tyr Davies
J.P.,1996
56 TGC-TTC Cys-Phe Eng
C.M.,1994a
56 TGC-GGC Cys-Gly Eng C.M.,1993
59 GAG-AAG Glu-Lys Eng
C.M.,1994a
65 AGT-ACT Ser-Thr Chen
C.H.,1998
66 GAG-CAG Glu-Gln Ishii
S.,1992
72 ATG-GTG Met-Val Okumiya.,1997
85 GGT-GAT Gly-Asp Madsen
K.M.,1995
89 CTC-CGC Leu-Arg Eng
C.M.,1994a
92 GAT-CAT Asp-His Davies
J.P.,1996
93 GAC-GGC Asp-Gly Davies
J.P.,1996
100 AGA-AAA Arg-Lys Eng
C.M.,1994a
112 CGC-CAC Arg-His Eng
C.M.,1994a
112 CGC-TGC Arg-Cys Ishii
S.,1992
128 GGA-GAA Gly-Glu Blanch
L.C.,1996
131 CTA-CCA Leu-Pro Eng
C.M.,1994a
142 TGC-TAC Cys-Tyr Okumiya.,1995
143 GCA-CCA Ala-Pro Eng
C.M.,1994a
144 GGC-GTC Gly-Val Eng
C.M.,1994a
146 CCT-TCT Pro-Ser Ploos van
Amstel J.K.,1994
De Jong
J.G.N.,1993
156 GCC-GTC Ala-Val Okumiya.,1995
156 GCC-ACC Ala-Thr Eng
C.M.,1994b
Madsen
K.M.,1993
162 TGG-TGC Trp-Cys Germain
D.,1996
162 TGG-CGG Trp-Arg Eng C.M.,1993
165 GAT-GTT Asp-Val Davies
J.P.,1994
166 CTG-GTG Leu-Val Okumiya.,1995
172 TGT-TAT Cys-Tyr Eng
C.M.,1994a
202 TGT-TGG Cys-Trp Ploos van
Amstel J.K.,1994
De Jong
J.G.N.,1993
205 CCT-ACT Pro-Thr Blanch
L.C.,1996
215 AAT-AGT Asn-Ser Davies
J.P.,1993a
Eng C.M.,1993
224 AAT-GAT Asn-Asp Guffon.,1997
227 CGA-CAA Arg-Gln Eng C.M.,1993
231 GAC-AAC Asp-Asn Redonnet-Vernhet I.,1996
236 TGG-TGC Trp-Cys Davies
J.P.,1996
244 GAC-AAC Asp-Asn Eng
C.M.,1994a
264 GAC-GTC Asp-Val Eng C.M.,1993
265 CCA-CGA Pro-Arg Germain
D.,1996
266 GAT-GTT Asp-Val Eng C.M.,1993
269 GTG-GCG Val-Ala Davies
J.P.,1993a
272 AAC-AAA Asn-Lys Eng
C.M.,1994a
279 CAG-GAG Gln-Glu Eng
C.M.,1994b
Ishii
S.,1992
284 ATG-ACG Met-Thr Blanch
L.C.,1996
287 TGG-GGG Trp-Gly Davies
J.P.,1996
288 GCT-GAT Ala-Asp Eng
C.M.,1994a
296 ATG-ATA Met-Ile Nakao
S.,1995
296 ATG-GTG Met-Val von Scheidt
W.,1991
Nakao
S.,1995
297 TCT-TTT Ser-Phe Eng C.M.,1993
298 AAT-AAG Asn-Lys Blanch
L.C.,1996
298 AAT-CAT Asn-His Davies
J.P.,1996
301 CGA-CAA Arg-Gln Sakuraba
H.,1990
Sawada
K.,1996
313 GAT-TAT Asp-Tyr Eng C.M.,1993
316 GTA-GAA Val-Glu Davies
J.P.,1994
327 CAA-AAA Gln-Lys Davies
J.P.,1993a
328 GGG-GCG Gly-Ala Eng C.M.,1993
328 GGG-AGG Gly-Arg Ishii
S.,1992
340 TGG-CGG Trp-Arg Davies
J.P.,1996
342 CGA-CAA Arg-Gln Ploos van
Amstel J.K.,1994
356 CGG-TGG Arg-Trp Bernstein
H.S.,1989
358 GAG-AAG Glu-Lys Miyazaki.,1997
361 GGA-AGA Gly-Arg Davies
J.P.,1993a
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2) nonsense мутации
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Кодон:Замена нук-:Замена амино-: Литература
:
: леотидов : кислот :
:
--------------------------------------------------------------------------
44 TGG-TAG Trp-Ter Sakuraba
H.,1990
78 TCA-TGA Ser-Ter Guffon.,1997
81 TGG-TAG Trp-Ter Eng
C.M.,1994a
99 CAA-TAA Gln-Ter Eng
C.M.,1994a
107 CAG-TAG Gln-Ter Davies
J.P.,1996
119 CAG-TAG Gln-Ter Davies
J.P.,1996
157 CAG-TAG Gln-Ter Eng
C.M.,1994a
220 CGA-TGA Arg-Ter Meaney.,1994
226 TGG-TAG Trp-Ter Davies
J.P.,1994
227 CGA-TGA Arg-Ter Davies
J.P.,1993a
287 TGG-TGA Trp-Ter Davies
J.P.,1993a
301 CGA-TGA Arg-Ter Eng
C.M.,1994a
340 TGG-TGA Trp-Ter Eng C.M.,1993
342 CGA-TGA Arg-Ter Davies
J.P.,1993a
365 TAT-TAA Tyr-Ter Miyamura
N.,1996
398 GAA-TAA Glu-Ter Eng C.M.,1993
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3) сплайсинговые мутации
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Интрон: Донор/ :Локали-:Замена нук-: Литература
:
:акцептор: зация : леотидов :
:
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1 ds -1 G - C Chen
C.H.,1998
2 ds +2 T - G Eng C.M.,1993
3 ds +1 G - T Davies
J.P.,1994
3 as -1 G - A Yokoi
T.,1991
4 ds -1 G - T Okumiya.,1995
6 ds +1 G - T Sakuraba
H.,1992
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4) инсерции
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Нуклео-:Кодон:Кол-во нук-:Нуклеотиды: Литература
:
тид : : леотидов : :
:
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716 1 A Davies
J.P.,1993a
1040 16 Eng C.M.,1993
11018 1 T Ploos
van Amstel J.K.,1994
De Jong
J.G.N.,1993
248 9 TGGACATCT Guffon.,1997
954 318 5 TTGCC Eng C.M.,1993
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5) делеции
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Кодон:Нуклео-:Кол-во нук-: Нуклеотиды : Литература
:
: тид : леотидов : :
:
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36 13 GGGCTGGCTGCAC Eng C.M.,1994b
85 18 ATGAGTACCTCTGCATTG Davies J.P.,1996
135 1 G Takenaka T.,1996
238 2 AA Davies J.P.,1996
257 2 AC Eng C.M.,1994b
329 1 C Blanch L.C.,1996
336 19 TGAAGTGTGGGAACGACCT Davies J.P.,1996
338 10 GTGGGAACGAC Eng C.M.,1994b
343 2 CT Germain D.,1996
357 3 GAG Blanch L.C.,1996
357 2 GA Ploos van Amstel J.K.,1994
360 20 GGACCTCGCTCTTATACCAT Germain D.,1996
362 1 G Davies J.P.,1996
382 3 CTT Cariolou M.A.,1996
392 2 AA Eng C.M.,1994b
403 3 AAG Eng C.M.,1994b
2 AG Eng C.M.,1993
125 13 Ishii S.,1991
716 1 Davies J.P.,1996
773 2 Eng C.M.,1993
1016 11 Eng C.M.,1993
1123 53 Eng C.M.,1993
1176 2 De Jong J.G.N.,1993
1208 3 Eng C.M.,1993
Экзон 3 402 Fukuhara Y.,1990
Экзон 1+2 11,6 kb Kornreich R.,1990
Экзон 3+4 3,2 kb Kornreich R.,1990
Экзон 6+7 1,7 kb Kornreich R.,1990
Экзон 3-7 4,5 kb Kornreich R.,1990
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6) дупликации
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Локализация:Кол-во нуклеотидов: Литература
:
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Экзоны 2-6 8,1 kb Kornreich R.,1990
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