Табл. W mut


                      1) missense   мутации
 -------------------------------------------------------------------------------
        Кодон  :Замена нук-:Замена амино-:      Литература                 
  :
               :деотидов   :  кислот     :                                 
  :
 -------------------------------------------------------------------------------
          377     TGG - TGT   trp - cys     Schneppenheim R.,1996a
          427     ATT - AAT   ile - asn     Mazurier C.
          528     AAT - AGT   asn - ser     Armitage H.,1979    
                                            Uno
H.,1994    
                                            Gaucher
C.,1996
          550     GGG - AGG   gly - arg     Schneppenheim R.,1995
          623     TGC - TGG   cys - trp     Gaucher
C.,1994
          782     CGG - TGG   arg - trp     Kroner
P.A.,1991a
          785     GGG - GAG   gly - glu     Gu
J.,1997 
          787     GAG - AAG   glu - lys     Schneppenheim R.,1995
          788     TGT - CGT   cys - arg     Peake
          788     TGT - TAT   cys - tyr     Jorieux
S.,1997a      
                                            Meyer
D.,1997
          791     ACG - ATG   thr - met     Wise
R.J.,1991      
                                            Tuley
E.A.,1991    
                                            Gaucher
C.,1991a
                                            Nesbitt
I.M.,1999  
          795     TAT - TGT    tyr - cys    Schneppenheim
          800     ATG - GTG    met - val    Hilbert
L.,1999
          816     CGG - TGG    arg - trp    Gaucher
C.,1991b    
                                            Mazurier C.,1992       
                                            Mazurier
C.,1994      
                                            Jorieux
S.,1992  
          816     CGG - CAG    arg - gln    John Owen
          817     CAT - CAA    his - gln    Kroner
P.A.,1991a
          854     CGG - CAG    arg - gln    Kroner
P.A.,1991b      
                                            Gaucher
C.,1991b   
                                            Mazurier C.,1992       
                                            Lavergne
J.M.,1992      
                                            Peerlinck K.,1992 
                                            Eikenboom J.C.,1993     
                                            Schneppenheim R.,1996b       
                                            Nesbitt
I.M.,1999   
          858     TGC - TTC    cys - phe    Jorieux
S.,1997a    
                                            Meyer
D.,1997   
          879     GAC - AAC    asp - asn    Jorieux
S.,1996 
         1053     CAG - CAT    gln - his    Hilbert
L.,1998  
         1060     TGT - CGT    cys - arg    Jorieux
S.,1997b
         1101     TGC - CGC    cys - arg
         1101     TGC - TGG    cys - trp
         1107     TAT - TGT    tyr - cys     Gaucher
C.,1997
         1120     TGG - TCG    trp - ser     Gaucher
C.,1997
         1130     TGC - TTC    cys - phe     Eikenboom J.C.,1996  
         1149     TGT - TCT    cys - arg     Eikenboom J.C.,1996   
         1156     ACG - ATG    thr - met     Holmberg    
                                             Casana
         1157     TGT - TTT    cys - phe
         1171     GAG - CAG    glu - gln     Gaucher
C.,1997
         1196     TGT - CGT    cys - arg
         1205     CGT - CTT    arg - leu     Gaucher
C.,1997    
                                             de
Romeuf C.,1997 
         1205     CGT - CAT    arg - his     Veyradier A.,2001     
                                             Schneppenheim R.,2000 
         1229     GTT - GGT    val - gly     Eikenboom J.C.,1998   
         1231     AAC - ACC    asn - thr     Eikenboom J.C.,1998
         1234     TGT - TGG    cys - trp
         1266     CCG - CTG    pro - leu     Eikenboom J.C.,1993    
                                             Holmberg L.,1993 
         1268     CAC - GAC    his - asp     Rabinowitz I.,1993 
         1272     TGC - GGC    cys - gly     Meyer
D.,1997 
         1272     TGC - CGC    cys - arg     Meyer
         1276     CTG - CCG    leu - pro     Meyer
D.,1997
         1279     GTC - ATC    val - ile     Lavergne J.M.,1999
                                             Eikenboom J.C.,1993   
         1282     CTG - CGG    leu - arg
         1285     TCC - TTC    ser - phe
         1295     CTG - CCG    leu - pro
         1302     GAC - GGC    asp - gly     Lavergne J.M.,1999
         1306     CGG - TGG    arg - trp     Cooney K.A.,1991      
                                             Cooney
K.A.,1992     
                                             Lillicrap D.,1991
                                             Randi
A.M.,1991b 
                                             Murray
E.W.,1991    
                                             Sugiura
I.,1991  
                                             Holmberg L.,1991     
                                             Pietu
G.,1992    
                                             Donner
M.,1992       
                                             Casana
P.,1998 
         1306     CGG - CAG     arg - gln    Hilbert
L.,1996a   
         1308     CGC - TGC     arg - cys    Cooney K.A.,1991 
                                             Randi
A.M.,1991a     
                                             Donner
M.,1991 
                                             Hagiwara T.,1996    
                                             Casana
P.,1998  
         1308     CGC - CAC     arg - his    Meyer
D.,1997
         1308     CGC - CCC     arg - pro    Hilbert
L.,1996a 
         1309     ATC - GTC     ile - val
         1313     TGG - TGC     trp - cys    Ware
J.,1991   
         1314     GTC - TTC     val - phe    Lavergne J.M.,1991      
                                             Ribba
A.S.,1994 
         1314     GTC - CTC     val - leu    Holmberg L.,1991 
         1314     GTC - GAC     val - asp    Casana
         1315     CGC - TGC     arg - cys    Casana
P.,1997      
                                             Casana
P.,1998     
                                             Meyer
D.,1997
         1316     GTG - ATG     val - met    Pietu
G.,1992  
                                             Lillicrap D.,1991
                                             Cooney K.A.,1991      
                                             Randi
A.M.,1991a  
                                             Murray
E.W.,1992
                                             Eikenboom J.C.,1994       
                                             Moll
S.,1988       
                                             Casana
P.,1998
         1324     GGC - AGC     gly - ser    Rabinowitz I.,1992  
         1324     GGC - GCC     gly - ala    Meyer
D.,1997
                                             Hilbert
L.,1997  
         1337     CCG - CTG     pro - leu    Kroner
P.A.,1992       
                                             Casana
P.,1998 
         1341     CGG - TGG     arg - trp    Casana
P.,1998 
         1341     CGG - CAG     arg - gln    Lillicrap D.,1991     
                                             Piao
Y.C.,1993    
                                             Cooney K.A.,1991   
                                             Murray
E.W.,1991
                                             Randi
A.M.,1991b      
                                             Randi
A.M.,1992      
                                             Liu
X.,1992
         1341     CGG - CTG     arg - leu    Hilbert
L.,1996a  
         1341     CGG - CCG     arg - pro    Liu
X.,1992
         1359     GAG - AAG     glu - lys    Meyer
D.,1997 
         1362     AAA - ACA     lys - thr
         1369     TTC - ATC     phe - ile    Mancuso
D.J.,1991a   
         1374     CGC - TGC     arg - cys    Hilbert
L.,1995b   
         1374     CGC - CAC     arg - his    Castaman G.,1995       
                                             Hilbert
L.,1995b  
         1374     CGC - CTC     arg - leu    Meyer
D.,1997
         1379     CGC - TGC     arg - cys    Casana
         1383     CTC - CCC     leu - pro    Sadler
         1383     CTC - CGC     leu - arg
         1399     CGC - TGC     arg - cys
         1421     AAC - AAG     asn - lys
         1425     ATC - TTC     ile - phe    Meyer
D.,1997   
         1437     GCC - ACC     ala - thr    Casana
         1458     TGT - TAT     cys - tyr    Meyer
D.,1997 
         1460     CTT - GTT     leu - val    Hilbert
L.,1994  
         1461     GCC - GTC     ala - val    Hilbert
L.,1995a  
         1461     GCC - GAC     ala - asp    Robert Montgomery
         1462     CCT - GCT     pro - ala
         1467     CCT - TCT     pro - ser    Robert Montgomery
         1503     CTG - CCG     leu - pro
         1505     GGA - GAG     gly - glu     Lyons
S.E.,1992 
                                              Inbal
A.,1992
         1505     GGA - CGA     gly - arg     Lyons
S.E.,1992
         1506     TCG - TTG     ser - leu     Lyons
S.E.,1992       
                                              Sugiura I.,1992
                                              Inbal
A.,1992
         1514     TTC - TGC     phe - cys     Gaucher C.,1993  
         1539     GTG - GAG     val - glu
         1540     CTG - CCG     leu - pro     Lyons
S.E.,1994   
         1543     TCC - TTC     ser - phe     Mazurier
         1556     CAG - CGG     gln - arg     Meyer
D.,1997  
         1562     CTG - CCG     leu - pro     Sugiura I.,1992
         1579     GGG - AGG     gly - arg     Robert Montgomery
         1580     CTG - CCG     leu - pro     Hilbert L.,1996b   
         1583     CGG - TGG     arg - trp
         1597     CGG - TGG     arg - trp     Ginsburg D.,1989     
                                              Bowen
D.J.,1990      
                                              Lyons
S.E.,1992       
                                              Inbal
A.,1992 
                                              Sugiura I.,1992    
                                              Winter
P.C.,1992       
                                              Hagiwara T.,1996
         1597     CGG - GGG     arg - gly
         1597     CGG - CTG     arg - leu
         1597     CGG - CAG     arg - gln     Inbal
A.,1993   
                                              Hagiwara T.,1996
         1604     GTC - TTC     val - phe     Meyer
D.,1997
         1607     GTC - GAC     val - asp     Ginsburg D.,1989       
                                              Lyons
S.E.,1992
         1609     GGA - AGA     gly - arg     Hagiwara T.,1996
         1613     TCT - CCT     ser - pro     Chang
H.Y.,1989   
         1614     GAT - GGT     asp - gly
         1628     ATT - ACT     ile - thr     Pietu
G.,1992      
                                              Lyons
S.E.,1994       
                                              Iannuzzi M.C.,1991 
         1629     GGA - AGA     gly - arg     Casana
P.,1999  
         1638     GAG - AAG     glu - lys     Lavergne J.M.,1991      
                                              Christophe O.,1994       
                                              Ribba
A.S.,1994   
         1639     CTG - CCG     leu - pro     Meyer
D.,1997
         1648     CCT - TCT     pro - ser     Pietu
G.,1992   
         1657     CTC - ATC     leu - ile     Enayat
M.S.,2000 
         1665     GTG - GAG     val - glu     Inbal
A.,1993  
         1672     GGA - AGA     gly - arg     Hagiwara T.,1996  
         1674     GGG - AGG     gly - arg     Inbal
A.,1993      
                                              Donner
M.,1993   
         2063     CCA - TCA     pro - ser     Peake
         2362     TGC - TTC     cys - phe     Bertina    
                                              Eikenboom
         2546     AAC - TAC     asn - tyr     Eikenboom J.C.,1991  
         2671     TGC - TAC     cys - tyr     Eikenboom J.C.,1998  
         2754     TGT - TGG     cys - trp     Schneppenheim R.,2001
         2773     TGC - CGC     cys - arg     Schneppenheim R.,1996a
         2776     CCG - TTG     pro - leu     Mazurier
         2801     GCC - GAC     ala - asp
 ------------------------------------------------------------------------

                      2)  nonsense мутации
 -------------------------------------------------------------------------
        Кодон  :Замена нук-:Замена амино-:      Литература              :
               :деотидов   :  кислот     :                              :
 -------------------------------------------------------------------------
          324   CGA - TGA    arg - ter      Schneppenheim R.,1994 
          365   CGA - TGA    arg - ter      Bahnak
B.R.,1991
         1311   CAG - TAG    gln - ter      Casana
         1659   CGA - TGA    arg - ter      Zhang
Z.P.,1992a    
                                            Zhang
Z.P.,1992b  
                                            Hagiwara
T.,1996
         1853   CGA - TGA    arg - ter      Zhang
Z.P.,1992c
         2535   CGA - TGA    arg - ter      Eikenboom J.C.,1991      
                                            Eikenboom J.C.,1992      
                                            Schneppenheim R.,1994    
                                            Zhang
Z.P.,1992c
 -------------------------------------------------------------------------

                       3) сплайсинговые мутации
 --------------------------------------------------------------------------
 Интрон :  Донор/  :Локализация:Замена нук-:         Литература          
:
        :акцепторн.:           : леотидов  :                             
:
 --------------------------------------------------------------------------
   25       ds         + 1       G - A        Nesbitt I.M.,1999 
   43       ds         + 1       G - A        Zhang
Z.P.,1994a 
   50       ds         + 3       G - T        Mertes
G.,1994  
 --------------------------------------------------------------------------

                         4) делеции
 ------------------------------------------------------------------------
  Локализация:Кол-во нук-: Делетированные :       Литература            :
    (кодон)  : леотидов  :   нуклеотиды   :                             :
 ------------------------------------------------------------------------
     707         2            CT            Gaucher
C.,1994
     810         1            C             Zhang
Z.P.,1992b     
                                            Schneppenheim R.,1994
     838         1            G             Kroner
P.A.,1996  
    1405         3            AAA           Schneppenheim R.,2000
    1483         1            G             Eikenboom J.C.L.,1998   
    1544         1            G             Schneppenheim R.,1994 
  экзоны 26-34                              Bernardi
F.,1990   
  целый ген                                 Schneppenheim R.,1994   
  целый ген                                 Ngo
K.Y.,1988  
  целый ген                                 Shelton-Inloes B.B.,1987  
 ------------------------------------------------------------------------

                         5)  инсерции
 ------------------------------------------------------------------------
  Локализация:Кол-во нук-:Инсерцированные:      Литература              :
  (нуклеотид): леотидов  :   нуклеотиды  :                              :
 ------------------------------------------------------------------------
   1212         6         AATCCC          Holmberg
L.,1998   
   1352        105                        Gaucher
C.,1995   
   1907         1           T             Zhang
Z.P.,1994a
    2122        3          GCG            Gaucher
C.,1994
   4160         3          ATG           Ribba
A.S.,1991 
   5221         1          C             Zhang
Z.P.,1994a 
   7375         1          C             Eikenboom
J.C.,1998 

Смотрите также:

  • Фактор Виллебранда. Мутации гена