Таблица F9m

Таблица F9m          
                    Мутации гена фактора lX (F IX)

                        крупные делеции
 ------------------------------------------------------------------------
    Размер делеции :   Локализация   :       Литература
     в килобазах   :                 :
 ------------------------------------------------------------------------
   
   > 163             весь ген             Ketterling R.P.,1994 
   >  80             все экзоны           Ketterling R.P.,1994 
   >  41             все экзоны           Ketterling R.P.,1994 
   >  38             экзоны b-h           Ketterling R.P.,1993
      26.8                                Ketterling R.P.,1993
      10,9                                Ketterling R.P.,1993
       8,8           экзоны g-h           Ketterling R.P.,1993
   >   3             экзон 1              Ketterling R.P.,1993
       1,1           экзон е              Ketterling R.P.,1993
      18                                  Giannelli
F.,1983 
       9                                  Giannelli
F.,1983 
   >  33                                  Haasan
H.J.,1985 
   > 4,4                                  Solera
J.,1992 
   > 80                                   Taylor
S.A.M.,1988 
   > 10      5+6 экзоны (a.a.85-195)      Chen
S.H.,1985 
     23                                   Green
P.M.,1988 
      2,8     4 экзон (a.a.47-84)         Vidaud
M.,1986 
   >  9                                   Ludwig
M.,1992a 
   > 44              экзоны 1-8           Thompson
A.R.,1994 
   > 40              экзоны 2-8           Thompson
A.R.,1994 
                     экзоны 2-8           Thompson
A.R.,1994 
     1,5             экзон 7              Ludwig
M.,1989 
     35              целый ген            Koeberl
D.D.,1990 
      8              экзоны 4-5           Ludwig
M.,1989 
      9              экзоны 1-3           Ludwig
M.,1989  
   > 11              экзон 1              Ludwig
M.,1989 
   > 35              экзоны 1-8           Ludwig
M.,1989 
                     экзоны d-f           Caglayan
S.H.,1997 

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 		 мелкие делеции

-------------------------------------------------------------------------
 Локализация:  Размер делеции : Последствия :       Литература
            :  в нуклеотидах  : делеции     :

-------------------------------------------------------------------------
     58          1              fs                Lin S.W.
     89          1              fs                Lillicrap D.
     13          1(-A)                            Reitsma P.H.,1989 
   111-120      10              fs                Saad S.,1994 
   112           1(-G)          fs                Ghanem N.,1993 
  6379           1(-A)          fs                Ghanem N.,1993 
  6392           1              fs                Green P.M.,1989   
  6398-9         2              fs                Green P.M.,1991 ;
                                                  Ketterling R.P.,1994 
  6401-10       10              fs                Solera J.
  6402-6         5 (-TGTTC)     fs                Ludwig M.,1992a 
  6411           1(-G)          fs;(ter 51)       Caglayan S.H.,1994 
  6416-17        2(-TT)         fs                Ludwig M.
  6420-25        6             -arg,glu           Wulff K.
  6441           1              fs                Saad S.,1994 
  6466           1              fs                Green P.M.,1991b  
  6484-6         3              -arg              Green P.M.,1989   
  6491-4         4              fs                Chen S.H.,1991b   
  6491-5         4              fs                Poort S.R.,1990   
  6666-75       10              fs                Green P.M.,1991b  
  6680-1         2(-TG)         fs                Matsushita T.,1990 
  6684           1              fs                Tartary M.
  9900-19218 (- M;:;7;>;=; d+e)                        Ludwig M.,1992 
 10434-5         2(-GT)         fs                Knobloch O.
 10506-9 8;;;8;
 10510-13        4              fs                Thompson A.R.
 10507-10        4              fs                Saad S.,1994 
 17660-3         4              fs                Koeberl D.D.,1989 
 17669           1 (-A)         fs                Schach B.G.,1987 
 17669-75        7              fs                Ketterling R.P.,1993
 17706           1              fs                Lin S.W.,1993a 
 17754,5 8;;;8; 6   1              fs                Poon M.C.,1993 
 20380-1         2              fs                Saad S.,1994
 20387-8         2              fs                Ketterling R.P.,1994 
 20398           1              fs                Green P.M.,1991b  
 20466-78       13              fs                Koeberl D.D.,1989 ;
                                                  Ketterling R.P.,1993
 20501           1              fs                Bottema C.D.K.,1990c
                                                  Green P.M.,1991b  ;
                                                  Ketterling R.P.,1993
 20510           1              fs                Green P.M.,1991b  
 20527-9         3             -gly               Saad S.,1994 
 20530-2         3(-GGA)       -gly               Saad S.,1994 
 20531-3         3             -gly               Thompson A.R.,1994 
 30050           1(-T)          fs                Knobloch O.
 30058           4              fs                Ghanem N.,1993 
 30839-41        3(-GAG)       -glu               Wulff K.
 30857           1(-C)          fs                Saad S.,1994  
 30845           1              fs                Tartary M.,1993 
 30890           1              fs                Nielsen L.R.,1992 
 30942           1(-A)          fs                Saad S.,1994
 30950-7         8              fs                Green P.M.,1989   
 31007           1(-A)          fs                Wulff K.
 31059-60        2              fs                Green P.M.,1989   
 31084-90        7 (-AGTTCTT)   fs                Ludwig M.,1992a 
 31110-12        3             -val               Ketterling R.P.,1993
 31149-51        3(-CCA)       in frame           Ludwig M.              

 31158-62        5(-ACAAC)      fs                Ludwig M. 
 31157-9 8;;;8;            
 31160-2,        3             -asn               Chen S.H.,1991b 
 31166(7)        1(-T)          fs                Ludwig M.,1992a
 31194-95        2                                Knobloch O.,1993 
 31261,          1(-T)          fs                Chan V.,1991 
 31286-87        2              fs                Knobloch O.,1993 
 31307-20       14              fs                Saad S.,1994 
 31321-28        8              fs                Knobloch O.,1993 
 31344(5)        1              fs                Winship P.R.,1991 
 31350           1(-A)          fs                Thompson A.R.,1994 

-----------------------------------------------------------------------------
		  инсерции

---------------------------------------------------------------------------
 Локализация:  Количество  :  Кодон  :       Литература
            :  нуклеотидов :         :

---------------------------------------------------------------------------
                 T           -2             Tartary
M.,1993 
   114          AT           -18            Giannelli F.,1996
  6472          GG            33            Saad
S.,1994 
 17718           A           101            Giannelli F.,1996
 17727          TT           105            Saad
S.,1994 
 17764           C           117            Ludwig
M.,1992a 
 17696           A            94            Giannelli F.,1996
 17713-8         A           108            Saad
S.,1994 
 17716          26           111            Tartary
M.,1993
 30800           A                          Green
P.M.,1992 
 30152           A           233            Ghanem
N.,1993 
 30930           T           290            Giannelli F.,1996
 31004          !;;;           295            Saad
S.,1994 
 31141          AA           340            Saad
S.,1994 
 31158           G           346            Giannelli F.,1996
 31157          AA           346            Thompson A.R.,1992 
 31210-13      AGAT          364            Thompson A.R.,1994 
 31270           T           383            Giannelli F.,1996
 31309           9                          David
D.,1993 
 31318      ATATATACC        399            David
D.,1993
 31345       GATT (4)                       Ketterling R.P.,1993
 31346       GATT            408            Bottema
C.D.K.,1989b 
 ;;=;B;@;>;=; d       6 kb                        Chen S.H.,1988                

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 		  инсерции + делеции

-----------------------------------------------------------------------------
  Кодон : Размер делеции :   Размер инсерции   :         Литература       
 :
        :                :                     :                          
 :

-----------------------------------------------------------------------------
 
-----------------------------------------------------------------------------
   48      3 bp (GAT)        1 bp (A)              Saad S.,1994           
  272      2 bp (GG)         1 bp (C)              Giannelli F.,1996
  345      5 bp (ACAAC)      1 bp (G)              Giannelli F.,1996
  363      2 bp (TA)         2 bp (CG)             Ludwig M.,1993
  401      2 bp (CC)        10 bp (AAGGTACCAA)     Rao K.J.,1990
  408      1 bp              4 bp (GATT)           Winship P.R.,1991
  ;;=;B;@;>;=; 1/
  M;:;7;>;=;   2  bp (GT)         1 bp (A)              Ludwig M.,1988 
          10,9 kb           95 kb                  Ketterling P.R.,1993   
          28,6 kb          2,3 kb                  Ketterling P.R.,1994  

          4442 bp           47 bp                  Solera J.,1992 

-----------------------------------------------------------------------------
		Сплайсинговые мутации

------------------------------------------------------------------------------
  Интрон: Донор/  :Локали-:  Замена :        Литература                   
   :
        :акцептор.: зация : нуклеот.:                                     
   :

------------------------------------------------------------------------------
   1      ds        + 1    G - C         Young.,1996  
   1      ds        + 1    G - T         Saad
S.,1994 
   1      ds        + 5    G - A         Green
P.M.,1991b  
   1      ds        + 5    G - C         Giannelli
F.,1996
   1      ds        + 5    G - T         Giannelli
F.,1996
   1      as        - 1    G - A         Saad
S.,1994 
   1      as        - 1    G - T         Ghanem
N.,1993 
   1      as        - 1    G - C         Giannelli
F.,1996
   1      ds        - 1    G - C         Giannelli
F.,1996
   1      ds        - 2    A - G         Saad
S.,1994
   1      as        - 6    T - G         Bottema
C.D.K.,1991b
   1      as        + 65   A - G         Koeberl D.D.,1990a 
   2      ds        + 1    G - A         Giannelli
F.,1996
   2      ds        + 3    G - C         Nielsen
L.R.,1994 
   2      ds        + 5    G - A         Ghanem
N.,1993 
   2      ds        + 6    T - C         Bottema
C.D.K.,1991b
                                         Saad
S.,1994
   2      as        - 1    G - A         Saad
S.,1994
   2      as        - 1    G - C         Ketterling
R.P.,1993
                                         Wulff K.,1995
   2      as        - 25   A - G         David D.,1997 
   2      ds        + 86   C - G         Bottema
C.D.K.,1991b
   3      ds        + 2    T - C         Ghanem
N.,1993 
   3      ds        + 2    T - G         Winship P.R.,1986
   3                       A - C         Picketts D.J.,1990
   3      ds        + 2    T - G         Giannelli
F.,1991 
   3      ds        + 5    G - A         Giannelli
F.,1996
   3      ds        + 5    G - C         Giannelli F.,1993 
   3      as        - 1    G - A         Koeberl D.D.,1990a
   3      ds        - 1    G - A         Saad
S.,1994
   3      as        - 2    A - T         Giannelli
F.,1996
   3      as        - 3    A - G         Ketterling
R.P.,1993
   4      ds        + 2    T - A         Saad
S.,1994
   4      ds        + 2    T - C         Saad
S.,1994
   4      ds        + 5    G - A         Giannelli
F.,1996
   4      ds        + 7    A - G         Koeberl D.D.,1990a;
                                         Bottema
C.D.K.,1991b
   4      as        - 1    G - C         Green
P.M.,1991b  
   4      as        - 1    G - T         Ludwig
M.,1992a ;
                                         Thompson
A.R.,1992
                                         Young.,1996
   4      as        - 2    A - C         Bowen
D.J.,1993 
   4      as        - 2    A - G         Koeberl D.D.,1990a ;
                                         Poon
M.C.,1993
                                         Haris
I.I.,1994 ;
                                         Saad
S.,1994
   4      as        - 4    T - C         Giannelli
F.,1996
   5      ds        + 1    G - A         Green
P.M.,1991b  
   5      ds        + 1    G - T         Chen
S.H.,1993 
   5      ds        + 2    T - A         Gostout
B.,1993 
   5      ds        + 2    T - C         Ghanem
N.,1993 
   5      ds        + 2    T - G         Saad
S.,1994
   5      ds        + 13   A - G         Koeberl D.D.,1990a         
   5      as        - 2    A - C         Giannelli
F.,1996
   5      as        - 2    A - T         Giannelli
F.,1996
   6      ds        + 1    G - T         Rees
D.J.G.,1985 
   6      ds        + 1    G - A         Giannelli
F.,1991
   6      ds        + 2    T - C         Giannelli
F.,1996
   6      as        - 1    G - C         Bottema
C.D.K.,1991a ;
                                         Poon
M.C.,1993
   6      as        - 1    G - A         Saad
S.,1994
   6      as        - 1    G - A         Wulff K.,1995  
   6      as        - 53   G - A         Bottema
C.D.K.,1991a   
   7      as        - 1    G - A         Matsushita
T.,1990
                                         Chen
S.H.,1991b
                                         Bottema
C.D.K.,1991a
   7      ds        + 1    G - A         Tartary
M.,1993
   7      as        - 1    G - T         Ludwig
M.,1992a ;
                                         Thompson A.R.,1992b ;
                                         Chen S.H.,1991 
   12     ds        + 5    G - A         Rootwelt H.,1994

-------------------------------------------------------------------------------

                    

                    промоторная область

---------------------------------------------------------------------------
 Локализа-:Замена нук-:                        Литература
    ция   :  леотидов :

---------------------------------------------------------------------------

  -793     G - A                            Matsushita T.,1990
  - 26     G - C                            Crossley M.,1992  
  - 26     G - A                            Gianelli F.,1996     
  - 23     C - T                            Ketterling R.P.,1995
  - 21     T - G                            Reijnen
M.J.,1993   
  - 20     T - A                            Reitsma
P.H.,1988
  - 20     T - C                            Ghanem
N.,1993   
  - 19     G - C                            Ketterling R.P.,1995
  -  6     G - A                            Crossley M.,1990a      
                                            Hirosawa S.,1990       
                                            Nishimura T.,1990       
                                            Bottema C.D.K.,1993       
                                            Ghanem
N.,1993
                                            Poon
M.C.,1993   
                                            Tartary
M.,1993     
                                            Stowell
K.M.,1993    
                                            Saad
S.,1994 
  -  6     G - C                            Gispert
S.,1989
  -  5     A - T                            Picketts D.J.,1992   
  -  5     A - G                            Saad
S.,1994  
     6     T - A                            Freedenberg D.L.,1991
     8     T - C                            Royle
G.,1991  
    13     A - G                            Reitsma
P.H.,1989       
                                            Koeberl
D.D.,1989       
                                            Crossley M.,1989       
                                            Ghanem
N.,1993
    13     A - C                            Gianelli F.,1996
   3'UTR   A - G                            Vielhaber E.,1993

-------------------------------------------------------------------------


                     missense мутации
 
-------------------------------------------------------------------------
  Экзон:Кодон:Замена нук-:Замена амино- :     Литература
       :     :  леотидов :   кислот     :

-------------------------------------------------------------------------

-------------------------------------------------------------------------
    1   - 44   CGC-CAC   arg-his            Ludwig
M.,1992b
    1   - 40   ATC-TTC   ile-phe            Poon
M.C.,1993
    1   - 30   ATC-AAC   ile-asn            Green
P.M.,1993
    1   - 26   GGA-GTA   gly-val            Giannelli F.,1996
    1   - 19   TGT-CGT   cys-arg            Bottema
C.D.K.,1991a  
    1   - 19   TGT-TAT   cys-tyr            Giannelli F.,1996
    1   - 19   TGT-TGG   cys-trp            Nielsen
L.R.,1994 
    1   - 17   GTT-ATT   val-ile            Bottema
C.D.K.,1991a  
    1   - 17   GTT-CTT   val-leu            Saad
S.,1994
    1   - 10   GCC-ACC   ala-thr            Giannelli F.,1996 
    1   - 10   GCC-GTC   ala-val            Giannelli F.,1996
    2   -  4   CGG-TGG   arg-trp            Green
P.M.,1989     
                                            Green P.M.,1990  
                                            Green
P.M.,1991       
                                            Bottema
C.D.K.,1991a       
                                            Ghanem
N.,1993
                                            Gostout
B.,1993    
                                            Knobloch O.,1993
                                            Saad
S.,1994  
    2   - 4    CGG-CTG    arg-leu           Koeberl D.D.,1990a
                                            Ghanem
N.,1993    
                                            Knobloch O.,1993
    2   - 4    CGG-CAG    arg-gln           Bentley
A.K.,1986
                                            Ware
J.,1989
                                            Green
P.M.,1989    
                                            Sugimoto M.,1989   
                                            Liddell
M.B.,1989a 
                                            Koeberl D.D.,1990a   
                                            Bottema
C.D.K.,1990a    
                                            Bottema
C.D.K.,1991b    
                                            Bottema C.D.K.,1993
                                            Lin
S.W.,1991
                                            Lin
S.W.,1993     
                                            Thompson A.R.,1992    
                                            Poon
M.C.,1993      
                                            Ghanem
N.,1993  
                                            Knobloch O.,1993    
                                            Saad
S.,1994   
                                            Tartary
M.,1993   
                                            Chan
V.,1991 
    2   - 2    AAG-AAT    lys-asn           Thompson A.R.,1992
    2   - 1    AGG-AGC/T  arg-ser           Diuguid
D.L.,1986
    2   - 1    AGG-ACG    arg-thr           Heit
J.A.,1998
    2     2    AAT-GAT    asn-asp           Koeberl
D.D.,1990
    2     2    AAT-TAT    asn-tyr           Koeberl
D.D.,1990b   Giannelli F.,1996 
    2     2    AAT-ATT    asn-ile           Poon
M.C.,1992  
    2     4    GGT-AGT    gly-ser           Saad
S.,1994
    2     4    GGT-GAT    gly-asp           Giannelli F.,1996
    2     5    AAA-GAA    lys-glu           Giannelli F.,1996
    2     7    GAA-GCA    glu-ala           Winship
P.R.,1991
    2     7    GAA-GTA    glu-val           Rowley
G.,1995
    2     7    GAA-GAT    glu-asp           Winship P.R.,1989
    2     8    GAA-GGA    glu-gly           Bottema
C.D.K.,1991b 
    2     8    GAG-GCG    glu-ala           Saad
S.,1994
    2     9    TTT-ATT    phe-ile           Saad
S.,1994
    2     9    TTT-TGT    phe-cys           Giannelli F.,1996
    2    12    GGG-GCG    gly-ala           Chan
V.,1991
    2    12    GGG-AGG    gly-arg           Gostout
B.,1993
    2    12    GGG-GAG    gly-glu           Saad
S.,1994
    2    17    GAA-AAA    glu-lys           Ghanem
N.,1993      
                                            Tartary
M.,1993
    2    17    GAA-CAA    glu-gln           Giannelli F.,1996 
    2    17    GAA-GCA    glu-ala           Giannelli F.,1996
    2    18    TGT-CGT    cys-arg           Ludwig
M.,1992a
                                            Tartary
M.,1993   
    2    18    TGT-TAT    cys-tyr           Bottema
C.D.K.,1991a       
                                            Tartary
M.,1993
    2    20    GAA-GTA    glu-val           Giannelli F.,1996 
    2    21    GAA-AAA    glu-lys           Hamaguchi N.,1991
    2    23    TGT-CGT    cys-arg           Lin
S.W.,1991
    2    23    TGT-AGT    cys-tyr           Lin
S.W.,1991
                                            Winship
P.R.,1991
    2    23    TGT-TAT    cys-tyr           Saad
S.,1994 
    2    25    TTT-TCT    phe-ser           Ludwig
M.,1992a
    2    26    GAA-CAA    glu-gln           Tartary
M.,1993  
    2    27    GAA-AAA    glu-lys           Chen
S.H.,1989b 
    2    27    GAA-GTA    glu-val           Wang
N.S.,1990b 
    2    27    GAA-GAC    glu-asp           Giannelli F.,1996
    2    29    CGA-CAA    arg-gln           Koeberl
D.D.,1989 
                                            Koeberl D.D.,1990a   
                                            Chen
S.H.,1993   
                                            Thompson A.R.,1992    
                                            Bottema C.D.K.,1993  
                                            Ghanem
N.,1993   
                                            Saad
S.,1994
    2    29    CGA-CCA    arg-pro           Thorland E.C.,1995 
    2    30    GAA-AAA    glu-lys           Ketterling R.P.,1993
    2    32    TTT-TCT    phe-ser           Giannelli F.,1996
    2    33    GAA-GAC    glu-asp           Koeberl
D.D.,1989 
    2    33    GAA-GAC    glu-asp           Koeberl
D.D.,1989 
    2    38    ACA-AGA    thr-arg           Giannelli F.,1996
    2    38    ACA-ATA    thr-ile           Saad
S.,1994
    3    43    AAG-GAG    lys-glu           Giannelli F.,1996
    3    45    TAT-AAT    tyr-asn           Saad
S.,1994
    3    45    TAT-GAT    tyr-asp           Gostout
B.,1993
    3    45    TAT-TGT    tyr-cys           Giannelli F.,1996
    3    46               gly-asp           Davis
L.M.,1984
    3    47    GAT-AAT    asp-asn           Saad
S.,1994 
    4    47    GAT-GGT    asp-gly           Davis
L.M.,1987
    4    47    GAT-GAA    asp-glu           Bottema
C.D.K.,1990c      
                                            Winship
P.R.,1991
    4    48    GGA-CGA    gly-arg           Lin
S.W.,1991 
    4    48    GGA-GTA    gly-val           Green
P.M.,1991b    Green P.M.,1991   
    4    49    GAT-TAT    asp-tyr           Giannelli F.,1996 
    4    49    GAT-GGT    asp-gly           Thorland E.C.,1995
    4    50    CAG-CCG    gln-pro           Lozier
J.N.,1990   
    4    50    CAG-CAC    gln-his           Saad
S.,1994
    4    51    TGT-TGG    cys-trp           Ghanem
N.,1993 
                                            Saad
S.,1994
    4    51    TGT-CGT    cys-arg           Giannelli F.,1996
    4    55    CCA-GCA    pro-ala           Spitzer
S.G.,1990b      
                                            Spitzer
S.G.,1989
                                            Green
P.M.,1989 
                                            Chen
S.H.,1991       Chen S.H.,1991a   
    4     55    CCA-TCA    pro-ser          Green
P.M.,1991b     Green P.M.,1991 
    4     55    CCA-CTA    pro-leu          Green
P.M.,1991b     Green P.M.,1991
    4     55    CCA-CAA    pro-gln          Ketterling R.P.,1993 
    4     56    TGT-CGT    cys-arg          Alkan
M.,1991
    4     56    TGT-TCT    cys-ser          Ludwig
M.,1991  
    4     56    TGT-AGT    cys-ser          Tartary
M.,1993 
    4     56    TGT-TAT    cys-tyr          Koeberl D.D.,1990a
    4     58    AAT-AAG    asn-lys          Giannelli F.,1996   
    4     59    GGC-AGC    gly-ser          Saad
S.,1994
    4     59    GGC-GTC    gly-val          Bottema
C.D.K.,1991b    
                                            Ketterling R.P.,1993
    4     60    GGC-AGC    gly-ser          Denton
P.H.,1988    
                                            Koeberl
D.D.,1989       
                                            Koeberl D.D.,1990a
                                            Poort
S.R.,1989a     
                                            Winship
P.R.,1991
                                            Thompson A.R.,1992a    
                                            Thompson A.R.,1992c    
                                            Green P.M.,1990   
                                            Chen
S.H.,1989b  
                                            Chen
S.H.,1991a       
                                            Ketterling R.P.,1991b       
                                            Chen
S.H.,1992     
                                            Bottema C.D.K.,1993   
                                            Poon
M.C.,1993    
                                            Tartary
M.,1993     
                                            Saad
S.,1994
    4     60    GGC-CGC    gly-arg          Bottema
C.D.K.,1991b
    4     60    GGC-GAC    gly-asp          Koeberl D.D.,1990a 
    4     60    GGC-TGC    gly-cys          Giannelli F.,1996   
    4     62    TGC-TAC    cys-tyr          Haris
I.I.,1994    
    4     64    GAT-AAT    asp-asn          Winship
P.R.,1991
    4     64    GAT-GGT    asp-gly          Green
P.M.,1989   
    4     64    GAT-GAG    asp-glu          Tartary
M.,1993
    4     66    ATT-ACT    ile-thr          Ghanem
N.,1993   
                                            Tartary
M.,1993  
    4     67    AAT-AAA    asn-lys          Caglayan S.H.,1997   
    4     69    TAT-TGT    tyr-cys          Ghanem
N.,1993
                                            Knobloch O.,1993     
                                            Saad
S.,1994
    4     71    TGT-TCT    cys-ser          Saad
S.,1994  
    4     71    TGT-AGT    cys-ser          Giannelli F.,1996
    4     71    TGT-TGG    cys-trp          Giannelli F.,1996
    4     72    TGG-AGG    trp-arg          Saad
S.,1994  
    4     73    TGT-CGT    cys-arg          Giannelli F.,1996  
    4     73    TGT-TAT    cys-tyr          Giannelli F.,1996
    4     73    TGT-TTT    cys-phe          Giannelli F.,1996 
    4     76    GGA-AGA    gly-arg          Giannelli F.,1996
    4     76    GGA-GTA    gly-val          Saad
S.,1994 
    4     77    TTT-TGT    phe-tyr          Giannelli F.,1996
    4     77    TTT-TGT    phe-cys          Saad
S.,1994
    4     77    TTT-TCT    phe-ser          Giannelli F.,1996
    4     78    GAA-AAA    glu-lys          Giannelli F.,1996
    4     79    GGA-AGA    gly-arg          Giannelli F.,1996  
    4     82    TGT-TAT    cys-tyr          Giannelli F.,1996
    5     88    TGT-TCT    cys-ser          Giannelli F.,1996
    5     88    TGT-CGT    cys-arg          Saad
S.,1994  
    5     88    TGT-TAT    cys-tyr          Tartary
M.,1993   
    5     90    ATT-ACT    ile-thr          Saad
S.,1994   
    5     92    AAT-CAT    asn-his          Nishimura H.,1991
    5     92    AAT-AAA    asn-lys          Ghanem
N.,1993     
                                            Tartary
M.,1993  
    5     93    GGC-AGC    gly-ser          Ketterling R.P.,1993 
    5     93    GGC-GAC    gly-asp          Nielsen
L.R.,1992 
    5     94    AGA-AGT    arg-ser          Bottema
C.D.K.,1991b
    5     95    TGC-TAC    cys-tyr          Bottema
C.D.K.,1991b
    5     95    TGC-TTC    cys-phe          Giannelli F.,1996  
    5     95    TGC-TGG    cys-trp          Nielsen
L.R.,1992
    5     97    CAG-GAG    gln-glu          Tartary
M.,1993
    5     97    CAG-CCG    gln-pro          Giannelli F.,1996
    5     99    TGT-CGT    cys-arg          Koeberl D.D.,1990a
    5     99    TGT-TAT    cys-tyr          Giannelli F.,1996 
    5    107    GTT-GTA    val-val          Green
P.M.,1991b    Green P.M.,1991
    5    107    GTT-GCT    val-ala          Chen
S.H.,1991      Chen S.H.,1991a   
    5    108    GTT-GCT    val-ala          Giannelli F.,1996  
    5    109    TGC-TCC    cys-ser          Giannelli F.,1996  
    5    109    TGC-TTC    cys-phe          Giannelli F.,1996
    5    110    TCC-CCC    ser-pro          Bottema
C.D.K.,1991a   
    5    111    TGT-CGT    cys-arg          Lin
S.W.,1993 
    5    111    TGT-TCT    cys-ser          Bowen
D.J.,1993 
    5    114    GGA-GCA    gly-ala          Ritchie
D.B.C.,1989    
                                            Winship
P.R.,1991
    5    114    GGA-GAA    gly-glu          Giannelli F.,1996 
    5    115    TAT-TGT    tyr-cys          Saad
S.,1994
    5    116    CGA-AGA    arg-arg          Saad
S.,1994   
    5    120    AAC-TAC    asn-tyr          Green
P.M.,1989
    5    121    CAG-CAT    gln-his          Giannelli F.,1996 
    5    123    TCC-CCC    ser-pro          Saad
S.,1994
    5    124    TGT-CGT    cys-arg          Giannelli F.,1996
    5    124    TGT-TAT    cys-tyr          Bottema
C.D.K.,1991a   
    5    124    TGT-TTT    cys-phe          Giannelli F.,1996  
    5    127    GCA-GTA    ala-val          Lin
S.W.,1993 
    5    127    GCA-GCT    ala-ala          Giannelli F.,1996   
    5    127    GCA-GCC    ala-ala          Giannelli F.,1996   
    5    127    GCA-GCG    ala-ala          Giannelli F.,1996   
    5    128    GTG-ATG    val-met          Bottema
C.D.K.,1991a   
    5    131    CCA-CTA    pro-leu          Giannelli F.,1996  
    6    132    TGT-CGT    cys-arg          Vidaud
M.,1990    
                                            Lin
S.W.,1993
    6    132    TGT-TTT    cys-phe          Green
P.M.,1991
    6    132    TGT-GGT    cys-gly          Saad
S.,1994  
    6    132    TGT-TCT    cys-ser          Saad
S.,1994 
    6    132    TGT-TGG    cys-trp          Giannelli F.,1996
    6    132    TGT-TAT    cys-tyr          Bottema
C.D.K.,1991a       
                                            Lin
S.W.,1993
                                            Tartary
M.,1993
    6    133    GGA-AGA    gly-arg          High
K.A.,1993 
    6    133    GGA-GAA    gly-glu          Tartary
M.,1993
    6    145    CGT-TGT    arg-cys          Toomey
J.R.,1988
                                            Liddell
M.B.,1989b     
                                            Winship
P.R.,1991    
                                            Green P.M.,1990  
                                            Thompson A.R.,1992b    
                                            Poon
M.C.,1993
                                            Knobloch O.,1993
                                            Saad
S.,1994      
                                            Thompson A.R.,1994   
    6    145    CGT-CAT    arg-his          Noyes
C.M.,1983  
                                            Diuguid
D.L.,1989  
                                            Green
P.M.,1991b  
                                            Suehiro
K.,1990       
                                            Hamaguchi M.,1991
                                            Bottema
C.D.K.,1989a     
                                            Bottema
C.D.K.,1991a       
                                            Bottema
C.D.K.,1991b     
                                            Bottema
C.D.K.,1991c     
                                            Bottema C.D.K.,1993    
                                            Koeberl
D.D.,1989      
                                            David
D.,1993     
                                            Lin
S.W.,1993 
                                            Saad
S.,1994 
                                            Aquilar-Martinez P.,1994b   
    6    145    CGT-CTT    arg-leu          Picketts D.J.,1990
    7    198    TTG-TGG    leu-trp           Saad
S.,1994 
    7    198    TTG-TCG    leu-ser           Ketterling R.P.,1993
    7    206    TGT-TCT    cys-ser           Taylor
S.A.M.,1990
                                             Saad
S.,1994 
    7    206    TGT-TAT    cys-tyr           Bottema C.D.K.,1991b
                                             Taylor
S.A.M.,1990 
    7    206    TGT-CGT    cys-arg           Knobloch O.,1993
                                             Saad
S.,1994
    7    207    GGA-AGA    gly-arg           David
D.,1993
                                             Saad
S.,1994
    7    207    GGA-GAA    gly-asp           Giannelli F.,1996
    7    207    GGA-GAA    gly-glu           Lin
S.W.,1993
    7    208    GGC-GAC    gly-asp           Saad
S.,1994
    7    211    GTT-TTT    val-phe           Chen
S.H.,1991
    7    212    AAT-AAG    asn-lys           Giannelli F.,1996
    7    215    TGG-CGG    trp-arg           Bottema C.D.K.,1990c
    7    215    TGG-GGG    trp-gly           Giannelli F.,1996
    7    215    TGG-TGC    trp-cys           Lin
S.W.,1993
    7    216    ATT-ACT    ile-thr           Green P.M.,1991b
                                             Koeberl D.D.,1990a
                                             Chen
S.H.,1991
    7    216    ATT-ATG    ile-met           Bottema C.D.K.,1991a
    7    218    ACT-ATT    thr-ile           Giannelli F.,1996
    7    219    GCT-ACT    ala-thr           Giannelli F.,1996
    7    220    GCC-GTC    ala-val           Koeberl D.D.,1990a
                                             Poon
M.C.,1993
    7    222    TGT-AGT    cys-ser           Saad
S.,1994
    7    222    TGT-TGG    cys-trp           Koeberl D.D.,1989
                                             Bottema C.D.K.,1989a 
    7     -     T - C         -              Koeberl D.D.,1990a
                                             Chen
S.H.,1991
    7    227    GTT-GTC    val-val           Koeberl D.D.,1989
                                             Chen
S.H.,1991
    7    233    GCA-ACA    ala-thr           Green P.M.,1991b 
                                             Tam
B.M.,1991
                                             Koeberl D.D.,1989
                                             Chen
S.H.,1991  
                                             Tartary M.,1993
                                             Saad
S.,1994
                                             Aquilar-Martinez P.,1994b
    8    234    GGT-GCT    gly-ala           Giannelli F.,1996
    8    237    AAT-GAT    asn-asp           Giannelli F.,1996
    8    238    ATT-AAT    ile-asn           Giannelli F.,1996
    8    245    GAG-AAG    glu-lys           Giannelli F.,1996
    8    245    GAG-GTG    glu-val           Ludwig
M.,1992b
                                             Koeberl D.D.,1990a
    8    248    CGA-GGA    arg-gly           Giannelli F.,1996
    8    248    CGA-CAA    arg-gln           Chen
S.H.,1989b
                                             Chen
S.H.,1991 
                                             Koeberl D.D.,1990a
                                             Ludwig
M.,1992b
                                             Bottema C.D.K.,1991a
                                             Koeberl D.D.,1990a
                                             Chen
S.H.,1991a  
                                             Thompson A.R.,1992a  
                                             David
D.,1993
                                             Bottema C.D.K.,1993 
                                             Ghanem
N.,1993  
                                             Poon
M.C.,1993
                                             Saad
S.,1994
    8    251    ATT-AAT    ile-asn           Saad
S.,1994
    8    252    CGA-CTA    arg-leu           Saad
S.,1994
    8    256    CAC-CGC    his-arg           Giannelli F.,1996 
    8    257    CAC-TAC    his-tyr           Montandon A.J.,1990a
    8    259    TAC-TGC    tyr-cys           Bottema C.D.K.,1991b
                                             Ketterling R.P.,1993
    8    260    AAT-AGT    asn-ser           Koeberl D.D.,1989
    8    260    AAT-ACT    asn-thr           Bottema C.D.K.,1989a
    8    268    CAT-CGT    his-arg           Saad
S.,1994
    8    268    CAT-CAG    his-gln           Tartary M.,1993
    8    269    GAC-AAC    asp-asn           Knobloch O.,1993
    8    269    GAC-GTC    asp-val           Giannelli F.,1996
    8    269    GAC-GGC    asp-gly           Ghanem
N.,1993 
                                             Saad
S.,1994
    8    269    GAC-GAA    asp-glu           Ketterling R.P.,1993 
    8    270    ATT-TTT    ile-phe           Gostout B.,1993
                                             Saad
S.,1994
    8    270    ATT-ACT    ile-thr           Bottema C.D.K.,1991a
    8    271    GCC-GTC    ala-val           Koeberl D.D.,1990a 
                                             Saad
S.,1994
    8    272    CTT-CGT    leu-arg           Bottema C.D.K.,1991b
    8    272    CTT-CAT    leu-his           Giannelli F.,1996
    8    272    CTT-TTT    leu-phe           Driscoll M.C.,1996
    8    273    CTG-CCG    leu-pro           Giannelli F.,1996 
    8    275    CTG-CCG    leu-pro           Bottema C.D.K.,1991a 
                                             Saad
S.,1994
    8    275    CTG-CAG    leu-gln           Giannelli F.,1996
    8    279    TTA-ATA    leu-ile           Giannelli F.,1996
    8    279    TTA-TCA    leu-ser           Ghanem
N.,1993  
    8    284    TAC-TGC    tyr-cys           Giannelli F.,1996
    8    287    CCT-CTT    pro-leu           Chen
S.H.,1991
    8    287    CCT-CAT    pro-his           Giannelli F.,1996
    8    288    ATT-ATG    ile-met           Bottema C.D.K.,1991a
    8    289    TGC-TTC    cys-phe           Gostout B.,1993
                                             Saad
S.,1994
    8    291    GCT-CCT    ala-pro           Winship P.R.,1991
    8    291    GCT-ACT    ala-thr           Montandon A.J.,1989   
                                             Green
P.M.,1992a
                                             Saad
S.,1994
    8    295    TAC-TGC    tyr-cys           Ghanem
N.,1993 
    8    296    ACG-GCA    thr-ala           Giannelli F.,1996
    8    296    ACG-AAG    thr-lys           Giannelli F.,1996
    8    296    ACG-ATG    thr-met           Green P.M.,1991b 
                                             Green P.M.,1990
                                             Bottema C.D.K.,1989a   
                                             Ketterling R.P.,1991a
                                             Ketterling R.P.,1991b  
                                             Chen
S.H.,1991
                                             Winship P.R.,1991
                                             Tarnover A.,1991
                                             Koeberl D.D.,1989
                                             Koeberl D.D.,1990a 
                                             Thompson A.R.,1992a  
                                             Thompson A.R.,1992c  
                                             Green
P.M.,1992   
                                             Nielsen L.N.,1992
                                             Bottema C.D.K.,1993   
                                             Knobloch O.,1993
                                             Poon
M.C.,1993
                                             Tartary M.,1993  
                                             Saad
S.,1994
    8    297    AAC-AAT    asn-asn           Bottema C.D.K.,1991 
    8    303    GGA-GTA    gly-val           Rowley
G.,1995
    8    305    GGC-GAC    gly-asp           Green P.M.,1991b
    8    307    GTA-GCA    val-ala           Bottema C.D.K.,1989a   
                                             Thompson A.R.,1992c  
                                             Chen
S.H.,1991
    8    307    GTA-GGA    val-gly           Green P.M.,1991b
    8    308    AGT-AAT    ser-asn           Tartary M.,1993
                                             Saad
S.,1994
    8    308    AGT-AGA    ser-arg           Giannelli F.,1996
    8    308    AGT-ACT    ser-arg           Giannelli F.,1994
    8    309    GGC-AGC    gly-ser           Winship P.R.,1991
    8    309    GGC-GTC    gly-val           Thompson A.R.,1989
    8    309    GGC-GAC    gly-asp           Ghanem
N.,1993 
                                             Gostout B.,1993
    8    310    TGG-CGG    trp-arg           Giannelli F.,1996
    8    310    TGG-TTG    trp-leu           Giannelli F.,1996
    8    310    TGG-TGC    trp-cys           Ketterling R.P.,1993
                                             Knobloch O.,1993
    8    310    TGG-TGT    trp-cys           Giannelli F.,1996
    8    311    GGA-AGA    gly-arg           Koeberl D.D.,1989
                                             Bottema C.D.K.,1989a  
                                             Bottema C.D.K.,1991b
    8    311    GGA-GAA    gly-glu           Miyata
T.,1991
    8    311    GGA-GTA    gly-val           Saad
S.,1994
    8    313    GTC-GGC    val-gly           Saad
S.,1994
    8    313    GTC-GAC    val-asp           Kuze
K.,1992
    8    316    AAA-GAA    lys-glu           Giannelli F.,1996
    8    317    GGG-CGG    gly-arg           Giannelli F.,1996
    8    317    GGG-GAG    gly-glu           Saad
S.,1994
    8    320    GCT-GAT    ala-asp           Koeberl D.D.,1990a
                                             Saad
S.,1994
    8    320    GCT-GTT    ala-val           Ghanem
N.,1993  
    8    324    CAG-GAG    gln-glu           Giannelli F.,1996
    8    324    CAG-CCG    gln-pro           Lin
S.W.,1993
    8    328    GTT-TTT    val-phe           Winship P.R.,1990   
                                             Knobloch O.,1993
    8    328    GTT-ATT    val-ile           Poort
S.R.,1990

    8    330    CTT-CCT    leu-pro           Saad
S.,1994 
    8    331    GTT-GCT    val-ala           Winship P.R.,1991
    8    331    GTT-GAT    val-asp           Giannelli F.,1996
    8    332    GAC-TAC    asp-tyr           Knobloch O.,1993
    8    333    CGA-GGA    arg-gly           Bottema C.D.K.,1990c
                                             Bottema C.D.K.,1991b
    8    333    CGA-CTA    arg-leu           Bottema C.D.K.,1991a 
    8    333    CGA-CAA    arg-gln           Tsang
T.C.,1988 
                                             Poort
S.R.,1989a  
                                             Wang
N.S.,1990a
                                             Ludwig
M.,1992a 
                                             Green
P.M.,1992a
                                             Green P.M.,1990   
                                             Green
P.M.,1989  
                                             Chen
S.H.,1991  
                                             Thompson A.R.,1992a 
                                             Bottema C.D.K.,1991a
                                             Bottema C.D.K.,1993
                                             Ghanem
N.,1993
                                             Knobloch O.,1993
                                             Tartary M.,1993
                                             Poon
M.C.,1993  
                                             David
D.,1993
                                             Saad
S.,1994
                                             Aquilar-Martinez P.,1994b
    8    334    GCC-ACC    ala-thr           Rowley
G.,1995
    8    334    GCC-GAC    ala-asp           Chan
V.,1991
    8    336    TGT-CGT    cys-arg           Green
P.M.,1989  
                                             Chen
S.H.,1991
                                             Saad
S.,1994
    8    336    TGT-TAT    cys-tyr           Green
P.M.,1991b
    8    337    CTT-ATT    leu-ile           Fraser
B.M.,1992
    8    337    CTT-TTT    leu-phe           Gostout B.,1993
    8    337    CTT-CCT    leu-pro           Giannelli F.,1996
    8    338    CGA-CCA    arg-pro           Ketterling R.P.,1993
    8    338    CGA-CAA    arg-gln           Zhang
M.,1989
    8    340    ACA-AGA    thr-arg           Ketterling R.P.,1993
    8    341    AAG-GAG    lys-glu           Heit
J.A.,1998            
    8    344    ATC-TTC    ile-phe           Giannelli F.,1996
    8    344    ATC-ACC    ile-thr           Costa
J.M.,2000
    8    347    AAC-ATC    asn-ile           Bottema C.D.K.,1991a 
    8    348    ATG-GTG    met-val           Chen
S.H.,1991
    8    348    ATG-AAG    met-lys           Giannelli F.,1996
    8    348    ATG-ATA    met-ile           Bottema C.D.K.,1991a
                                             Ketterling R.P.,1993
                                             Tartary M.,1993
    8    349    TTC-CTC    phe-leu           Giannelli F.,1996
    8    350    TGT-TCT    cys-ser           Taylor
S.A.M.,1991
    8    350    TGT-AGT    cys-ser           Giannelli F.,1994
    8    350    TGT-TAT    cys-tyr           Saad
S.,1994
    8    350    TGT-TTT    cys-phe           Tartary M.,1993
    8    351    GCT-CCT    ala-pro           Chan
V.,1998 
    8    352    GGC-GAC    gly-asp           Giannelli F.,1996
    8    352    GGC-GCC    gly-ala           Giannelli F.,1996
    8    356    GGA-AGA    gly-arg           Saad
S.,1994
    8    359    GAT-GGT    asp-gly           Giannelli F.,1996
    8    360    TCA-TTA    ser-leu           Chen
S.H.,1991
                                             Ghanem
N.,1993 
                                             Saad
S.,1994
    8    361    TGT-CGT    cys-arg           Giannelli F.,1996
    8    361    TGT-GGT    cys-gly           Giannelli F.,1996
    8    361    TGT-TAT    cys-tyr           Giannelli F.,1996
    8    361    TGT-TCT    cys-ser           Giannelli F.,1996
    8    361    TGT-AGT    cys-ser           Giannelli F.,1994
    8    363    GGA-AGA    gly-arg           High
K.A.,1993 
    8    363    GGA-GTA    gly-val           Bajaj
S.P.,1990
    8    363    GGA-GCA    gly-ala           Thompson A.R.,1992a
    8    363    GGA-GAA    gly-glu           Saad
S.,1994
    8    364    GAT-CAT    asp-his           Ludwig
M.,1992b
                                             Bottema C.D.K.,1990c
    8    364    GAT-AAT    asp-asn           Saad
S.,1994
    8    364    GAT-GTT    asp-val           Chen
S.H.,1991
    8    364    GAT-GAC    asp-asp           Ludwig
M.,1992b
    8    365    TA-GG      ser-gly           Ludwig
M.,1988
                                             Ludwig
M.,1992b
    8    365    AGT-GGT    ser-gly           Ludwig
M.,1992b
    8    365    AGT-ATT    ser-ile           Ludwig
M.,1992b
    8    365    AGT-AGA    ser-arg           Koeberl D.D.,1990a
    8    365    AGT-AGG    ser-arg           Giannelli F.,1996
    8    365    AGT-AAT    ser-asn           Giannelli F.,1996
    8    366    GGG-GAG    gly-glu           Bottema C.D.K.,1991a 
                                             Ghanem
N.,1993
    8    367    GGA-AGA    gly-arg           Chen
S.H.,1991
                                             Ghanem
N.,1993
    8    367    GGA-GAA    gly-glu           Giannelli F.,1996
    8    368    CCC-ACC    pro-thr           Bertina R.M.,1990
                                             Bottema C.D.K.,1990c
    8    368    CCC-CTC    pro-leu           Bottema C.D.K.,1991b
                                             Nielsen L.N.,1992  
                                             Saad
S.,1994
    8    369    CAT-AAT    his-asn           Giannelli F.,1996 
    8    369    CAT-CGT    his-arg           Bottema C.D.K.,1991c
    8    369    CAT-CAA    his-gln           Giannelli F.,1996
    8    373    GTG-GAG    val-glu           Aguilar-Martinez P.,1994a
    8    376    ACC-AAC    thr-asn           Green
P.M.,1991b
    8    378    TTC-CTC    phe-leu           Chen
S.H.,1991
    8    378    TTC-GTC    phe-val           Caglayan S.H.,1997
    8    379    TTA-TTC    leu-phe           Tam
B.M.,1991
    8    380    ACT-CCT    thr-pro           David
D.,1993
    8    380    ACT-AGT    thr-ser           Chan
V.,1991
    8    380    ACT-ATT    thr-ile           Giannelli F.,1996
    8    380    ACT-AAT    thr-asn           Giannelli F.,1996
    8    384    AGC-ATC    ser-ile           Giannelli F.,1996
    8    385    TGG-CGG    trp-arg           Giannelli F.,1996
    8    385    TGG-AGG    trp-arg           Giannelli F.,1996
    8    385    TGG-TGT    trp-cys           Saad
S.,1994
    8    386    GGT-AGT    gly-ser           Giannelli F.,1996
    8    386    GGT-GAT    gly-asp           Kuze
K.,1992
    8    386    GGT-GCT    gly-ala           Saad
S.,1994
    8    386    GGT-GTT    gly-val           Heit
J.A.,1998      
    8    387    GAA-GGA    glu-gly           Bottema C.D.K.,1991a
    8    388    GAG-GGG    glu-gly           Giannelli F.,1996
    8    389    TGT-GGT    cys-gly           Giannelli F.,1996
    8    389    TGT-TAT    cys-tyr           Tartary M.,1993
                                             Saad
S.,1994
    8    390    GCA-TCA    ala-ser           Giannelli F.,1996
    8    390    GCA-ACA    ala-thr           Gostout B.,1993  
                                             Tartary M.,1993
    8    390    GCA-GTA    ala-val           Spitzer S.G.,1988  
                                             Tarnower A.,1991 
                                             Sugimoto M.,1988  
                                             Nishimura H.,1990  
                                             Saad
S.,1994
    8    390    GCA-GAA    ala-glu           Wang
N.S.,1990a
                                             Chen
S.H.,1991a
                                             Saad
S.,1994
    8    394    AAA-AAC    lys-asn           Giannelli F.,1996
    8    395    TAT-CAT    tyr-his           Giannelli F.,1996
    8    395    TAT-TGT    tyr-cys           Saad
S.,1994
    8    396    GGA-CGA    gly-arg           Attree
O.,1989
                                             Vidaud
M.,1988
                                             Ghanem
N.,1993 
    8    396    GGA-GTA    gly-val           Saad
S.,1994
    8    396    GGA-GCA    gly-ala           Giannelli F.,1994
    8    397    ATA-ACA    ile-thr           Ware
J.,1988  
                                             Bottema C.D.K.,1989a
                                             Spitzer S.G.,1990a   
                                             Bottema C.D.K.,1990b
                                             Geddes
V.A.,1989
                                             Attree
O.,1989 
                                             Koeberl D.D.,1989 
                                             Ketterling R.P.,1991b
                                             Chen
S.H.,1991 
                                             Thompson A.R.,1990   
                                             Thompson A.R.,1992a
                                             Poon
M.C.,1993 
                                             Sarkar
G.,1991
    8    398    TAT-TCT    tyr-ser           Saad
S.,1994
    8    399    ACC-ATC    thr-ile           Giannelli F.,1996
    8    402    TCC-TTC    ser-phe           Koeberl D.D.,1990a 
    8    403    CGG-TGG    arg-trp           Giannelli F.,1996
    8    403    CGG-CAG    arg-gln           Poon
M.C.,1993
                                             Saad
S.,1994   
                                             Aquilar-Martinez P.,1994b
    8    404    TAT-CAT    tyr-his           Giannelli F.,1996
    8    404    TAT-TGT    tyr-cys           Giannelli F.,1996
    8    405    GTC-TTC    val-phe           Thompson A.R.,1992a
    8    407    TGG-CGG    trp-arg           Koeberl D.D.,1989
                                             Bottema C.D.K.,1989a 
                                             Bottema C.D.K.,1991a   
                                             Ketterling R.P.,1993
    8    408    ATT-ACT    ile-thr           Giannelli F.,1994
    8    412    ACA-AAA    thr-lys           Bottema C.D.K.,1991a
                                             Ketterling R.P.,1993

-------------------------------------------------------------------------


                           nonsense мутации

-------------------------------------------------------------------------
 Экзон :Кодон:Замена нук-:Замена амино-:        Литература
       :     : леотидов  :   кислот    :

-------------------------------------------------------------------------
    2    11    CAA-TAA     gln-ter           Winship P.R.,1991
    2    26    GAA-TAA     glu-ter           Giannelli F.,1994 
    2    29    CGA-TGA     arg-ter           Green
P.M.,1989  
                                             Montandon A.J.,1989   
                                             Green P.M.,1990     
                                             Green
P.M.,1991b     Green P.M.,1991       
                                             Koeberl D.D.,1990     Koeberl D.D.,1990b       
                                             Lin
S.W.,1991     
                                             Thompson A.R.,1992       
                                             Green
P.M.,1992  
                                             Knobloch O.,1993
                                             Bottema C.D.K.,1993   
                                             Gostout B.,1993  
                                             Tartary M.,1993
                                             Saad
S.,1994
    2    30    GAA-TAA     glu-ter           Giannelli F.,1996
    2    33    GAA-TAA     glu-ter           Haris
I.I.,1994
    3    42    TGG-TAG     trp-ter           Saad
S.,1994  
    3    44    CAG-TAG     gln-ter           Giannelli F.,1996
    4    50    CAG-TAG     gln-ter           Ghanem
N.,1993 
    4    52    GAG-TAG     glu-ter           Bottema C.D.K.,1991a   
                                             Knobloch O.,1993
    4     71    TGT-TGA    cys-ter           Saad
S.,1994
    4     72    TGG-TGA    trp-ter           Ghanem
N.,1993
    4     73    TGT-TGA    cys-ter           Ghanem
N.,1993
    5     95    TGC-TGA    cys-ter           Tam
B.M.,1991
                                             Ketterling R.P.,1993      
                                             Saad
S.,1994 
    5    116    CGA-TGA    arg-ter           Montandon A.J.,1990a
                                             Bottema C.D.K.,1991b      
                                             Nielsen L.N.,1992  
                                             Lin
S.W.,1993  
                                             Saad
S.,1994 
    6    145    TAT-TAG    tyr-ter           Thompson A.R.,1994  
    6    155    TAT-TAG    tyr-ter           Thompson A.R.,1994
    6    162    GAA-TAA    glu-ter           Giannelli F.,1996  
    6    173    CAA-TAA    gln-ter           Giannelli F.,1994
    6    191    CAA-TAA    gln-ter           Matsushita T.,1990      
                                             Aquilar-Martinez P.,1994b
    6    194    TGG-TAG    trp-ter           Green
P.M.,1989     
                                             Green
P.M.,1991b     Green P.M.,1991       
                                             Gostout B.,1993
                                             Saad
S.,1994 
    6    194    TGG-TGA    trp-ter           Saad
S.,1994
    6    195    CAG-TAG    gln-ter           Thompson A.R.,1992b
    7    207    GGA-TGA    gly-ter           Thompson A.R.,1992b
    7    213    GAA-TAA    glu-ter           Giannelli F.,1996 
    7    215    TGG-TAG    trp-ter           Chen
S.H.,1991     Chen S.H.,1991a   
    7    224    GAA-TAA    glu-ter           Giannelli F.,1996 
    8    248    CGA-TGA    arg-ter           Green
P.M.,1989    
                                             Green P.M.,1990 
                                             Green
P.M.,1991b     Green P.M.,1991       
                                             Green
P.M.,1992a     Green P.M.,1992       
                                             Wang
N.S.,1990a
                                             Koeberl D.D.,1990a   
                                             Tarnover A.,1991    
                                             Bottema C.D.K.,1991b      
                                             Bottema C.D.K.,1993      
                                             Gostout B.,1993     
                                             Poon
M.C.,1993
                                             Tartary M.,1993  
                                             Saad
S.,1994 
    8    252    CGA-TGA    arg-ter           Siguret V.,1988
                                             Green
P.M.,1991b     Green P.M.,1991       
                                             Chen
S.H.,1989a      
                                             Taylor
S.A.M.,1990    
                                             Poon
M.C.,1987
                                             Bottema C.D.K.,1991a
                                             Green
P.M.,1992a     Green P.M.,1992      
                                             Figueiredo M.S.,1993
                                             Ghanem
N.,1993      
                                             Ketterling R.P.,1993   
                                             Saad
S.,1994       
                                             Aquilar-Martinez P.,1994b
    8    266    TAC-TAG    tyr-ter           Giannelli F.,1996
    8    284    TAC-TAA    tyr-ter           Ketterling R.P.,1993 
                                             Tartary M.,1993
    8    294    GAA-TAA    glu-ter           Bottema C.D.K.,1991a
                                             Chen
S.H.,1991     Chen S.H.,1991a      
                                             Ketterling R.P.,1993
    8    295    TAC-TAA    tyr-ter           Giannelli F.,1996
    8    306    TAT-TAA    tyr-ter           Thompson A.R.,1991
    8    306    TAT-TAG    tyr-ter           Giannelli F.,1996
    8    310    TGG-TAG    trp-ter           Tarnover A.,1991       
                                             Wang
N.S.,1990a
                                             Tartary M.,1993
    8    324    CAG-TAG    gln-ter           Bottema C.D.K.,1991a
    8    325    TAC-TAG    tyr-ter           Bottema C.D.K.,1991a
    8    325    TAC-TAA    tyr-ter           Gostout B.,1993
    8    333    CGA-TGA    arg-ter           Koeberl D.D.,1990b
                                             Montandon A.J.,1990b
                                             Thompson A.R.,1992    
                                             Chen
S.H.,1991     Chen S.H.,1991a       
                                             Bottema C.D.K.,1991a
                                             David
D.,1993
                                             Knobloch O.,1993  
                                             Lin
S.W.,1993
                                             Ghanem
N.,1993 
                                             Gostout B.,1993
                                             Gostout B.,1993 
                                             Saad
S.,1994 
    8    336    TGT-TGA    cys-ter           Giannelli F.,1996
    8    338    CGA-TGA    arg-ter           Ludwig
M.,1989
                                             Driscoll M.C.,1989a     Driscoll M.C.,1989       
                                             Green P.M.,1990      
                                             Poon
M.C.,1987
                                             Poon
M.C.,1993      
                                             Freedenberg D.L.,1989
                                             Tam
B.M.,1991
                                             Gostout B.,1993  
                                             Tartary M.,1993     
                                             Aquilar-Martinez P.,1994b
    8    345    TAT-TAA    tyr-ter           Giannelli F.,1994
    8    360    TCA-TGA    ser-ter           Ghanem
N.,1993
    8    363    GGA-TGA    gly-ter           Saad
S.,1994
    8    374    GAA-TAA    glu-ter           Saad
S.,1994  
    8    379    TTA-TGA    leu-ter           Knobloch O.,1993
    8    385    TGG-TAG    trp-ter           Giannelli F.,1996
    8    388    GAG-TAG    glu-ter           Giannelli F.,1996
    8    407    TGG-TAG    trp-ter           Saad
S.,1994  
    8    411    AAA-TAA    lys-ter           Giannelli F.,1994

-------------------------------------------------------------------------

                          silent мутации
 -------------------------------------------------------------------------
 Экзон :Кодон:Замена нук-:Замена амино-:      Литература
       :     :  леотидов :   кислот    :

-------------------------------------------------------------------------
    5    107    GTT-GTA    val-val          Green
P.M.,1991b     Green P.M.,1991   
    5    116    CGA-AGA    arg-arg          Saad
S.,1994
    6    191    CAA-CAG    gln-gln          Thompson A.R.,1992
    7    227    GTT-GTC    val-val          Koeberl
D.D.,1989
                                            Chen
S.H.,1991     Chen S.H.,1991a   
    8    364    GAT-GAC    asp-asp          Ludwig
M.,1992b

-------------------------------------------------------------------------

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