Таблица F9m330-412

Таблица F9m330-412
                    Мутации гена фактора lX (F IX)

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