Таблица 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
 --------------------------------------------------------------------------
 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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