Табл. F 9 m'1 (1-145)
Мутации гена фактора lX (F IX)
missense мутации
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Экзон:Кодон:Замена нук-:Замена амино- : Литература
: : леотидов : кислот :
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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
