Таблица FBN m

     Идентифицированные мутации в гене фибрилина (FBN1) человека

                     1) missense  мутации
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      Кодон  :Замена нук-:Замена амино-:         Литература        :
             :  леотидов :    кислот   :                           :
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        111    TGT-CGT     Cys-Arg           Hayward
C.,1997a
        122    CGC-TGC     Arg-Cys           Stahl-Hallengren C.,1994
        129    TGC-TAC     Cys-Tyr           Nijbroek G.,1995
        166    TGT-TCT     Cys-Ser           Collod-Beroud G.,1997
        166    TGT-TTT     Cys-Phe           Nijbroek G.,1995
        217    TGG-GGG     Trp-Gly           Karttunen L.,1994
        267    GGG-AGG     Gly-Arg           Karttunen L.,1994
        476    TGC-GGC     Cys-Gly           Piersall L.D.,1994
        490    GAT-TAT     Asp-Tyr           Hayward
C.,1997b
        545    CGC-TGC     Arg-Cys           Hayward
C.,1997a
        548    AAC-ATC     Asn-Ile           Dietz
H.C.,1993
        587    TGT-TAT     Cys-Tyr           Booms
P.,1997
        627    CGT-TGT     Arg-Cys           Hayward
C.,1994a
        661    TGC-CGC     Cys-Arg           Collod-Beroud G.,1997
        705    GCG-ACG     Ala-Thr           Ades
L.C.,1996
        711    TGC-TAC     Cys-Tyr           Ades
L.C.,1996
        723    GAT-GCT     Asp-Ala           Dietz
H.C.,1993
        746    TAT-TGT     Tyr-Cys           Nijbroek G.,1995
        750    TGC-GGC     Cys-Gly           Hayward
C.,1994a
        862    TGT-CGT     Cys-Arg           Tynan
K.,1993
        926    TGT-CGT     Cys-Arg           Nijbroek G.,1995
        984    GTC-ATC     Val-Ile           Grau.,1996
       1013    GGA-AGA     Gly-Arg           Nijbroek G.,1995
       1023    AAG-AAC     Lys-Asn           Kainulainen K.,1994
       1043    AAG-AGG     Lys-Arg           Wang
M.,1997
       1048    ATT-ACT     Ile-Thr           Lonnovist L.,1996
       1053    TGC-CGC     Cys-Arg           Putnam
E.A.,1996
       1055    TGT-GGT     Cys-Gly           Ades
L.C.,1996
       1071    ATT-AGT     Ile-Ser           Wang
M.,1996
       1072    GAC-GGC     Asp-Gly           Putnam
E.A.,1996
       1073    GAA-GAT     Glu-Asp           Wang
M.,1996
       1073    GAA-AAA     Glu-Lys           Nijbroek G.,1995
       1074    TGC-CGC     Cys-Arg           Dietz
H.C.,1995
       1086    TGT-TGG     Cys-Trp           Mathews
K.,1995
       1117    TGT-TAT     Cys-Tyr           Tynan
K.,1993 
       1117    TGT-GGT     Cys-Gly           Putnam
E.A.,1996
       1127    GGT-AGT     Gly-Ser           Francke
U.,1995
       1131    AAC-TAC     Asn-Tyr           Wang
M.,1997
       1137    CGC-CCC     Arg-Pro           Dietz
H.C.,1991
       1153    TGT-TAT     Cys-Tyr           Ades
L.C.,1996
       1155    GAC-AAC     Asp-Asn           Milewicz D.M.,1996
       1170    CGT-CAT     Arg-His           Hayward
C.,1994b
       1171    TGC-TGG     Cys-Trp           Hayward
C.,1997a
       1173    AAC-AAG     Asn-Lys           Hayward
C.,1997a
       1223    TGT-TAT     Cys-Tyr           Hewett
D.R.,1994
       1242    TGT-TAT     Cys-Tyr           Kainulainen K.,1994
       1249    TGT-TCT     Cys-Ser           Dietz
H.C.,1995 
       1382    AAT-AGT     Asn-Ser           Nijbroek G.,1995
       1404    GAC-TAC     Asp-Tyr           Hayward
C.,1997a
       1513    TGC-CGC     Cys-Arg           Kainulainen K.,1994
       1580    GTG-GGG     Val-Gly           Kainulainen K.,1994
       1589    TGT-TTT     Cys-Phe           Tynan
K.,1993  
       1610    TGC-GGC     Cys-Gly           Hayward
C.,1997a
       1663    TGT-CGT     Cys-Arg           Dietz
H.C.,1992
       1837    CCC-TCC     Pro-Ser           Milewicz D.M.,1996
       1893    AAT-AAA     Asn-Lys           Hayward
C.,1997a
       1928    TGT-CGT     Cys-Arg           Nijbroek G.,1995
       2099    TGC-TGG     Cys-Trp           Hayward
C.,1997a
       2111    TGT-TAT     Cys-Tyr           Hayward
C.,1997a
       2127    GAT-GAA     Asp-Glu           Kainulainen K.,1994 
       2144    AAT-AGT     Asn-Ser           Hewett
D.R.,1993
       2151    TGC-TGG     Cys-Trp           Kainulainen K.,1994
       2221    TGT-TCT     Cys-Ser           Dietz
H.C.,1992
       2258    TGT-CGT     Cys-Arg           Hayward
C.,1997a
       2282    CGG-TGG     Arg-Trp           Hayward
C.,1997a
       2307    TGC-TCC     Cys-Ser           Dietz
H.C.,1995
       2447    GAG-AAG     Glu-Lys           Kainulainen K.,1994  
       2489    TGT-CGT     Cys-Arg           Hayward
C.,1997a
       2511    TGT-CGT     Cys-Arg           Kainulainen K.,1994
       2623    CAC-CCC     His-Pro           Collod-Beroud G.,1997
       2627    GGG-AGG     Gly-Arg           Dietz
H.C.,1995
       2680    CGC-TGC     Arg-Cys           Grossfield J.,1993 
       2726    CGG-TGG     Arg-Trp           Milewicz D.M.,1995   
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                    2) nonsense мутации
 ----------------------------------------------------------------------
      Кодон  :Замена нук-:Замена амино-:         Литература           :
             :  леотидов :    кислот   :                              :
 ----------------------------------------------------------------------
        565    CGA-TGA     Arg-Ter           Quan
E.,1995
        994    GAG-TAG     Glu-Ter           Karttunen L.,1997
       2113    TAT-TAG     Tyr-Ter           Dietz
H.C.,1995
       2262    CAA-TAA     Gln-Ter           Nijbroek G.,1995
       2756    TGG-TGA     Trp-Ter           Kainulainen K.,1992
       2776    CGA-TGA     Arg-Ter           Hayward
C.,1994c   
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