Табл. MPS II m
Идентифицированные мутации в гене идуронатсульфатазы
IDS человека
1) missense мутации
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Экзон:Кодон: Замена : Замена :
:
: : нуклео-: амино- : Литература
:
: : тидов : кислот :
:
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48 CGC-CCC Arg-Pro Sukegawa
K.,1995
63 AAT-GAT Asn-Asp Goldenfum
S.L.,1996
68 GCA-GAA Ala-Glu Schroder
W.,1994
85 GCC-ACC Ala-Thr Rathmann
M.,1996
86 CCG-CAG Pro-Gln Rathmann
M.,1996
86 CCG-CGG Pro-Arg Hopwood
J.J.,1993
86 CCG-CTG Pro-Leu Popowska
E.,1995
87 AGC-AAC Ser-Asn Popowska
E.,1995
88 CGC-CAC Arg-His Rathmann
M.,1996
88 CGC-TGC Arg-Cys Rathmann
M.,1996
92 CTC-CCC Leu-Pro Popowska
E.,1995
94 GGC-GAC Gly-Asp Hopwood
J.J.,1993
95 AGG-GGG Arg-Gly Goldenfum
S.L.,1996
108 TAC-TGC Tyr-Cys Rathmann
M.,1996
120 CCC-CAC Pro-His Hopwood
J.J.,1993
120 CCC-CGC Pro-Arg Hopwood
J.J.,1993
125 GAG-GTG Glu-Val Rathmann
M.,1996
132 TCG-TGG Ser-Trp Jonsson
J.J.,1995
134 GGA-CGA Gly-Arg Rathmann
M.,1996
135 AAA-AGA Lys-Arg Bunge
S.,1992
135 AAA-AAT Lys-Asn Popowska
E.,1995
160 CCT-CGT Pro-Arg Flomen
R.H.,1992
182 CTG-CCG Leu-Pro Isogai
K.,1998
184 TGC-TTC Cys-Phe Rathmann
M.,1996
196 TTG-TCG Leu-Ser Isogai
K.,1998
205 GCC-CCC Ala-Pro Goldenfum
S.L.,1996
221 CTG-CCG Leu-Pro Hopwood
J.J.,1993
225 TAT-GAT Tyr-Asp Isogai
K.,1998
227 AAG-ATG Lys-Met Isogai
K.,1998
227 AAG-CAG Lys-Gln Hopwood
J.J.,1993
229 CAC-TAC His-Tyr Jonsson
J.J.,1995
252 GAT-AAT Asp-Asn Rathmann
M.,1996
293 CAG-CAC Gln-His Schroder
W.,1994
308 GAT-AAT Asp-Asn Isogai
K.,1998
314 CTC-CCC Leu-Pro Isogai
K.,1998
333 TCG-TTG Ser-Leu Flomen
R.H.,1992
334 GAT-GGT Asp-Gly Li
P.,1995
337 TGG-CGG Trp-Arg Sukegawa
K.,1995
345 TGG-TGT Trp-Cys Popowska
E.,1995
346 GCC-GAC Ala-Asp Olsen.,1996
346 GCC-GTC Ala-Val Li
P.,1995
347 AAA-ACA Lys-Thr Villani
G.R.D.,1997
347 AAA-ATA Lys-Ile Rathmann
M.,1996
349 AGC-ATC Ser-Ile Gort.,1997
358 CCC-CGC Pro-Arg Jonsson
J.J.,1995
403 CTT-CGT Leu-Arg Rathmann
M.,1996
410 CTG-CCG Leu-Pro Ben
Simon-Schiff E.,1994
422 TGC-GGC Cys-Gly Hopwood
J.J.,1993
468 CGG-CAG Arg-Gln Whitley
C.B.,1993
468 CGG-CTG Arg-Leu Sukegawa
K.,1995
468 CGG-TGG Arg-Trp Crotty
P.L.,1992
469 CCT-CAT Pro-His Jonsson
J.J.,1995
478 GAC-GGC Asp-Gly Schroder
W.,1994
485 ATA-AGA Ile-Arg Schroder
W.,1994
502 TGG-TCG Trp-Ser Flomen
R.H.,1992
521 GAA-GTA Glu-Val Gort.,1997
523 TAT-TGT Tyr-Cys Jonsson
J.J.,1995
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2) nonsense мутации
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Экзон:Кодон: Замена : Замена :
:
: : нуклео-: амино- : Литература
:
: : тидов : кислот :
:
--------------------------------------------------------------------------
80 CAG-TAG Gln-Ter Carrozzo
R.,1996
151 TAT-TAG Tyr-Ter Isogai
K.,1998
172 CGA-TGA Arg-Ter Flomen
R.H.,1992
234 TAC-TAA Tyr-Ter Li P.,1995
298 CAG-TAG Gln-Ter Rathmann
M.,1996
345 TGG-TAG Trp-Ter Sukegawa
K.,1995
365 GGA-TGA Gly-Ter Rathmann
M.,1996
375 GAG-TAG Glu-Ter Hopwood
J.J.,1993
389 CAG-TAG Gln-Ter Jonsson
J.J.,1995
Carrozzo
R.,1996
426 TCA-TGA Ser-Ter Schroder
W.,1994
443 CGA-TGA Arg-Ter Bunge
S.,1992
465 CAG-TAG Gln-Ter Li P.,1995
474 CAG-TAG Gln-Ter Rathmann
M.,1996
475 TGG-TGA Trp-Ter Bunge
S.,1992
531 CAG-TAG Gln-Ter Sukegawa
K.,1995
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