Таблица OTC m

      Идентифицированные мутации в гене  OTC человека

                       1)  missense  мутации

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    Кодон  :Замена нук-:Замена амино-:        Литература                :
           :  леотидов :  кислот     :                                  :
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        1     ATG-GTG     Met-Val        Leibundgut
E.O.,1997
       26     CGG-CAG     Arg-Gln        Grompe
M.,1991
       39     GGC-TGC     Gly-Cys        Calvas.,1997
       40     CGT-CAT     Arg-His        Tuchman
M.,1994a
       40     CGT-TGT     Arg-Cys        Leibundgut
E.O.,1995
       43     CTC-TTC     Leu-Phe        Leibundgut
E.O.,1997
       44     ACT-ATT     Thr-Ile        Yoo
H.W.,1996
       45     CTA-CCA     Leu-Pro        Grompe
M.,1991 
       47     AAC-ATC     Asn-Ile        Tuchman
M.,1997 
       50     GGA-AGA     Gly-Arg        Tuchman
M.,1997
       55     TAT-GAT     Tyr-Asp        Nishiyori.,1997 
       56     ATG-ACG     Met-Thr        Tuchman
M.,1997
       60     TCA-TTA     Ser-Leu        Tuchman
M.,1995b
       63     CTG-CCG     Leu-Pro        Leibundgut
E.O.,1997
       79     GGG-GAG     Gly-Glu        Tuchman
M.,1993
       83     GGC-CGC     Gly-Arg        Tuchman
M.,1997
       87     GAG-AAG     Glu-Lys        Feldmann
D.,1992
       88     AAA-AAT     Lys-Asn        Tuchman
M.,1993
       92     CGA-CAA     Arg-Gln        Grompe
M.,1991
       93     ACA-GCA     Thr-Ala        Tuchman
M.,1995a
       94     AGA-ACA     Arg-Thr        Tuchman
M.,1993
      100     GGC-GAC     Gly-Asp        Leibundgut
E.O.,1997
      102     GCA-GAA     Ala-Glu        Tuchman
M.,1995b
      109                 Arg-Glu        Strautnieks
S.,1991
                                         Lee
J.T.,1989
      111     CTT-CCT     Leu-Pro        Grompe
M.,1991 
      117     CAT-CGT     His-Arg        Satoh.,1992
      117     CAT-CTT     His-Leu        Tuchman
M.,1994b
      125     ACG-ATG     Thr-Met        Gilbert-Dussardier B.,1996 
      126     GAC-GGC     Asp-Gly        Matsuura
T.,1994
      129     CGT-CAT     Arg-His        Matsuura
T.,1994;
                                         Tuchman
M.,1994a 
      129     CGT-CTT     Arg-Leu        Strautnieks
S.,1993
      139     TTG-TCG     Leu-Ser        Tuchman
M.,1997
      140     GCT-CCT     Ala-Pro        Tsai
M.Y.,1993
      141     CGA-CAA     Arg-Gln        Maddalena
A.,1988
      141     CGA-CCA     Arg-Pro        Tuchman
M.,1997
      148     TTG-TTC     Leu-Phe        Komaki
S.,1997
      159     ATT-ACT     Ile-Thr        Garcia-Perez M.A.,1995
      161     AAT-AGT     Asn-Ser        Tuchman
M.,1995a
      162     GGG-AGG     Gly-Arg        Feldmann
D.,1992
      168     CAT-CGT     His-Arg        Vella.,1996
      168     CAT-CAA     His-Gln        Tuchman
M.,1997
      172     ATC-ATG     Ile-Met        Matsuura
T.,1994
      174     GCT-CCT     Ala-Pro        Tuchman
M.,1993
      175     GAT-GTT     Asp-Val        Tuchman
M.,1997
      176     TAC-TGC     Tyr-Cys        Leibundgut
E.O.,1996a ;
                                         Leibundgut
E.O.,1997
      178     ACG-ATG     Thr-Met        Leibundgut
E.O.,1995
      182     CAC-CTC     His-Leu        Tuchman
M.,1994b 
      183     TAT-TGT     Tyr-Cys        Tuchman
M.,1993 
      183     TAT-GAT     Tyr-Asp        Leibundgut
E.O.,1997
      188     GGT-CGT     Gly-Arg        Gilbert-Dussardier B.,1996 
      192     AGC-AGG     Ser-Arg        Hoshide
R.,1993
      195     GGG-AGG     Gly-Arg        Tuchman
M.,1994a
      196     GAT-GTT     Asp-Val        Hoshide
R.,1993 
      201     CTG-CCG     Leu-Pro        Shimadzu.,1997
      202     CAC-TAC     His-Tyr        Tuchman
M.,1997
      203     TCC-TGC     Ser-Cys        Tuchman
M.,1994b
      207     AGC-AGA     Ser-Arg        Shimadzu.,1997
      208     GCA-ACA     Ala-Thr        Van
Diggelon O.P.,1996
      209     GCG-GTG     Ala-Val        Garcia-Perez M.A.,1995
      213     ATG-AAG     Met-Lys        Leibundgut
E.O.,1997
      214     CAC-TAC     His-Tyr        Yoo
H.W.,1996
      216     CAG-GAG     Gln-Glu        Grompe
M.,1989
      220     CCA-GCA     Pro-Ala        Leibundgut
E.O.,1996a ;
                                         Leibundgut
E.O.,1997
      225     CCG-CGG     Pro-Arg        Garcia-Perez M.A.,1997 
      225     CCG-CTG     Pro-Leu        Hentzen
D.,1991
      225     CCG-ACG     Pro-Thr        Tuchman
M.,1994a 
      242     ACC-ATC     Thr-Ile        Tuchman
M.,1997 
      244     CTG-CAG     Leu-Gln        Calvas.,1997
      247     ACA-AAA     Thr-Lys        Tuchman
M.,1995a
      263     GAC-AAC     Asp-Asn        Tuchman
M.,1997
      264     ACT-ATT     Thr-Ile        Shimadzu.,1997
      264     ACT-GCT     Thr-Ala        Hoshide
R.,1993
      267     AGC-CGC     Ser-Arg        Shimadzu.,1997
      268     ATG-ACG     Met-Thr        Hoshide
R.,1993
      270     CAA-CGA     Gln-Arg        Tuchman
M.,1993
      277     CGG-CAG     Arg-Gln        Tuchman
M.,1994a
      277     CGG-TGG     Arg-Trp        Finkelstein
J.E.,1990
      302     CAC-CTC     His-Leu        Gilbert-Dussardier B.,1996 
      302     CAC-CAG     His-Gln        Tuchman
M.,1997 
      302     CAC-TAC     His-Tyr        Leibundgut
E.O.,1996a
      303     TGC-TAC     Cys-Tyr        Tuchman
M.,1997 
      303     TGC-CGC     Cys-Arg        Calvas.,1997
      304     TTG-TTT     Leu-Phe        Tuchman
M.,1992
      320     CGA-CTA     Arg-Leu        Grompe
M.,1991
      330     AGA-GGA     Arg-Gly        Tuchman
M.,1997
      337     GTC-CTC     Val-Leu        Matsuda
I.,1997
      339     GTG-CTG     Val-Leu        Tuchman
M.,1997 
      340     TCC-CCC     Ser-Pro        Leibundgut
E.O.,1997
      343     ACA-AAA     Thr-Lys        Tuchman
M.,1995a 
      345     TAC-GAC     Tyr-Asp        Tuchman
M.,1992
      354     TTT-TGT     Phe-Cys        Tuchman
M.,1997
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                         2)  nonsense      мутации
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     Кодон  :Замена нук-:Замена амино-:        Литература                :
            :  леотидов :  кислот     :                                  :
 -------------------------------------------------------------------------
       23     CGA-TGA     Arg-Ter        Grompe
M.,1991
       32     CAA-TAA     Gln-Ter        Leibundgut
E.O.,1997
       50     GGA-TGA     Gly-Ter        Feldmann
D.,1992
       92     CGA-TGA     Arg-Ter        Grompe
M.,1991
      141     CGA-TGA     Arg-Ter        Hata
A.,1989
                                         Hata
A.,1991 
      144     AAA-TAA     Lys-Ter        Tuchman
M.,1995a
      154     GAA-TAA     Glu-Ter        Grompe
M.,1989
      164     TCA-TGA     Ser-Ter        Hoshide
R.,1993
      167     TAC-TAA     Tyr-Ter        Garcia-Perez M.A.,1995
      167     TAC-TAG     Tyr-Ter        Shimadzu.,1997
      193     TGG-TAG     Trp-Ter        Shimadzu.,1997
      310     GAA-TAA     Glu-Ter        Tuchman
M.,1993 
      320     CGA-TGA     Arg-Ter        Demmer
L.A.,1996
      332     TGG-TGA     Trp-Ter        Matsuura
T.,1994 
      348     CAG-TAG     Gln-Ter        Leibundgut
E.O.,1997
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