Табл. GBA m


      Идентифицированные мутации в гене глюкоцереброзидазы
                       (GBA)  человека

                      1) missense  мутации
 ------------------------------------------------------------------------
        Кодон : Замена нук- :Замена амино-:       Литература           :
              :   леотидов  :    кислот   :                            :
 ------------------------------------------------------------------------
          15      GTG-CTG       Val-Leu      Kim
J.W.,1996
          43      ACA-ATA       Thr-Ile      Beutler E.,1995a
          46      GGG-GAG       Gly-Glu      Kim
J.W.,1996
          48      CGG-TGG       Arg-Trp      Beutler E.,1995a
          79      AAG-AAC       Lys-Asn      Beutler E.,1996a
         120      CGG-CAG       Arg-Gln      Graves
P.N.,1988
                                             Choy
F.Y.M.,1991
         120      CGG-TGG       Arg-Trp      Beutler E.,1996b
         122      CCC-TCC       Pro-Ser      Beutler E.,1993a
         140      GAT-CAT       Asp-His      Eyal
N.,1991
         157      AAG-CAG       Lys-Gln      Latham
T.E.,1991
         176      GCC-GAC       Ala-Asp      Beutler E.,1994a
         178      CCC-TCC       Pro-Ser      Choy
F.Y.M.,1995
         182      CCC-ACC       Pro-Thr      Beutler E.,1994a
         188      AAT-AGT       Asn-Ser      Kim
J.W.,1996
         189      GGA-GTA       Gly-Val      Ida
H.,1997
         195      GGG-GAG       Gly-Glu      Grace
M.E.,1997
         202      GGA-AGA       Gly-Arg      Beutler E.,1994a
         212      TAC-CAC       Tyr-His      Beutler E.,1993a
         213      TTT-ATT       Phe-Ile      Kawame
H.,1991
         216      TTC-TAC       Phe-Tyr      Beutler E.,1990
         216      TTC-GTC       Phe-Val      Horowitz M.,1994
         257      CGA-CAA       Arg-Gln      Beutler E.,1994a
         266      CCT-CGT       Pro-Arg      Walley
A.J.,1995
         271      AGT-AAT       Ser-Asn      Grace
M.E.,1997
         285      CGC-TGC       Arg-Cys      Beutler E.,1994a
         289      CCC-CTC       Pro-Leu      He
G.S.,1992a
         309      GCT-GTT       Ala-Val      Latham
T.E.,1991
         312      TGG-TGT       Trp-Cys      Latham
T.E.,1991
         313      TAC-CAC       Tyr-His      Cormand B.,1996
         315      GAC-CAC       Asp-His      Walley
A.J.,1995
         318      GCT-GAT       Ala-Asp      Walley
A.J.,1995
         323      ACC-ATC       Thr-Ile      He
G.S.,1992a
         325      GGG-AGG       Gly-Arg      Eyal
N.,1990
         326      GAG-AAG       Glu-Lys      Eyal
N.,1991
         342      TGT-GGT       Cys-Gly      Eyal
N.,1990
         352      GTG-CTG       Val-Leu      Grace
M.E.,1997
         353      CGG-GGG       Arg-Gly      Parenti G.,1998
         359      CGA-CAA       Arg-Gln      Kawame
H.,1992
         364      AGC-ACC       Ser-Thr      Latham
T.E.,1991
         366      AGC-GGC       Ser-Gly      Ida
H.,1997
         369      ACG-ATG       Thr-Met      Beutler E.,1996a
         370      AAC-AGC       Asn-Ser      Tsuji
S.,1988 
                                             Cormand B.,1998
                                             Choy
F.Y.M.,1991
                                             Cormand B.,1995
                                             Sidransky E.,1994
                                             Horowitz M.,1993
                                             Zimran
A.,1991 
                                             Zimran
A.,1990
         375      GTG-TTG       Val-Leu      Cormand B.,1997
         377      GGC-AGC       Gly-Ser      Laubscher K.H.,1994
         378      TGG-GGG       Trp-Gly      Beutler E.,1994a
         380      GAC-GCC       Asp-Ala      Walley A.J.,1993 
         380      GAC-AAC       Asp-Asn      Beutler E.,1994a
         387      CCC-CTC       Pro-Leu      Morar
B.,1996
         394      GTG-TTG       Val-Leu      Theophilus B.D.,1989
         396      AAC-ACC       Asn-Thr      Amaral
O.,1996
         399      GAC-AAC       Asp-Asn      Beutler E.,1994b
         402      ATC-ACC       Ile-Thr      Cormand B.,1997
         409      GAC-GTC       Asp-Val      Horowitz M.,1994
         409      GAC-CAC       Asp-His      Eyal
N.,1990
                                             Horowitz M.,1993
                                             Cormand B.,1995
                                             Chabas
A.,1995
         413      AAA-CAA       Lys-Gln      Ida
H.,1997
         415      CCC-CGC       Pro-Arg      Wigderson M.,1989 
                                             Choy
F.Y.M.,1991
         417      TTC-GTC       Phe-Val      Choy F.Y.M.,1994 
         418      TAC-TGC       Tyr-Cys      Tuteja.,1994 
         425      AAG-GAG       Lys-Glu      Kawame
H.,1992
         433      AGA-GGA       Arg-Gly      Ida
H.,1997
         444      CTG-CCG       Leu-Pro      Tsuji S.,1987 
                                             Dahl
N.,1990
                                             Choy
F.Y.M.,1991
         444      CTG-CGG       Leu-Arg      Uchiyama A.,1994
                                             Sidransky E.,1994
                                             Kawame
H.,1993
                                             Horowitz M.,1993
                                             Cormand B.,1995
         456      GCT-CCT       Ala-Pro      Latham
T.E.,1990
         463      CGC-TGC       Arg-Cys      Hong
C.M.,1990 
                                             Choy
F.Y.M.,1991
                                             Sidransky E.,1994
                                             Horowitz M.,1993
                                             Cormand B.,1995
         478      GGC-AGC       Gly-Ser      Beutler E.,1993a
         496      CGC-CAC       Arg-His      Beutler E.,1993a
         496      CGC-TGC       Arg-Cys      Kawame
H.,1992
                                             Horowitz M.,1993
 
------------------------------------------------------------------------

                      2) nonsense мутации
  -----------------------------------------------------------------------
        Кодон : Замена нук- :Замена амино-:       Литература           :
              :   леотидов  :    кислот   :                            :
  -----------------------------------------------------------------------
          74      AAG-TAG       Lys-Ter       Grace
M.E.,1997
         173      TCA-TGA       Ser-Ter       Beutler E.,1995a
         179      TGG-TAG       Trp-Ter       Grace
M.E.,1997
         359      CGA-TGA       Arg-Ter       Beutler E.,1994b
         414      CAG-TAG       Gln-Ter       Beutler E.,1996a
 
------------------------------------------------------------------------

                   3) сплайсинговые мутации
 
------------------------------------------------------------------------
   Интрон :  Донор/  :Локали-:Замена нук-:          Литература          
:
     IVS  :акцепторн : зация : леотидов  :                              
:
 
------------------------------------------------------------------------
     2       ds       + 1      G - A           Beutler E.,1992a 
                                               Beutler E.,1992b
                                               He
G.S.,1992b
                                               Sidransky E.,1994
                                               Cormand B.,1995
    10       ds       - 1      G - A           Ohshima T.,1993
  -----------------------------------------------------------------------

                        4) делеции
 
------------------------------------------------------------------------
   Кодон :Кол-во нук-:   Нуклеотиды   :          Литература             
:
         : леотидов  :                                                  
:
 
------------------------------------------------------------------------
    41         1            C                   Beutler E.,1993a
    17         1            C                   Beutler E.,1993a
   138         1            C                   Tayebi N.,1997 
   265         1            C                   Beutler E.,1995a
   444         2           AC                   Grace M.E.,1997
   целый ген                                    Beutler E.,1994c
 
------------------------------------------------------------------------

                          5) инсерции
 
------------------------------------------------------------------------
  Нуклеотид:Кол-во нук-:   Нуклеотиды   :         Литература            
:
           : леотидов  :                                                
:
 
------------------------------------------------------------------------
    84          1              G                 Beutler E.,1991
                                                 Sidransky E.,1994
                                                 Horowitz M.,1993
                                                 Cormand B.,1995
  1098          1              A                 Cormand B.,1996
 
------------------------------------------------------------------------

                        6) делеции + инсерции
 
------------------------------------------------------------------------
   Делеция нуклеотидов : Инсерция нуклеотидов :      Литература         
:
 
------------------------------------------------------------------------
           20  bp                2 bp              Uchiyama A.,1994
 
------------------------------------------------------------------------

Смотрите также:

  • Болезнь Гоше: генетика