Табл. Col I AI m
Идентифицированные мутации в гене COL I AI человека
1) в регуляторной области
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Нуклеотид: Замена нуклеотидов : Литература :
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+ 2046 G - T Grant
S.F.A.,1996
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2) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
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13 GGC-GCC Gly-Ala Mayer
S.A.,1996
43 GGT-TGT Gly-Cys Shapiro
J.R.,1992
46 GGT-TGT Gly-Cys Byers
P.H.,1991
79 GGA-AGA Gly-Arg Redford-Badwal D.A.,1996
85 GGA-GTA Gly-Val Valli
M.,1993a
85 GGA-AGA Gly-Arg Deak
S.B.,1991
97 GGT-GAT Gly-Asp Lightfoot S.J.,1992
154 GGG-AGG Gly-Arg Pruchno
C.J.,1991
Zhuang
J.,1996
172 GGT-CGT Gly-Arg MacKay
K.,1994
175 GGT-TGT Gly-Cys Wirtz
M.K.,1993
178 GGT-TGT Gly-Cys Valli
M.,1991
205 GGC-TGC Gly-Cys Byers
P.H.,1990
220 GGT-GCT Gly-Ala Sarafova A.P.,1998
223 GGT-TGT Gly-Cys Byers
P.H.,1990
244 GGC-TGC Gly-Cys Fertala
A.,1993
247 GGC-AGC Gly-Ser Mackay
K.,1993a
256 GGT-GTT Gly-Val Patterson E.,1989
298 GGA-CGA Gly-Arg Byers
P.H.,1991
349 GGT-TGT Gly-Cys Sarafova A.P.,1998
352 GGT-AGT Gly-Ser Bateman
J.F.,1992
382 GGT-AGT Gly-Ser Mackay
K.,1993a
382 GGT-TGT Gly-Cys Byers
P.H.,1990
391 Arg-Gly Bateman
J.F.,1987
415 GGC-AGC Gly-Ser Bateman
J.F.,1992
Mottes
M.,1993
415 GGC-TGC Gly-Cys Nicholls A.C.,1991
523 GGT-TGT Gly-Cys Sarafova A.P.,1998
541 GGT-GAT Gly-Asp Zhuang
J.,1991
541 GGT-AGT Gly-Ser Mackay
K.,1993a
550 GGA-AGA Gly-Arg Wallis
G.A.,1990
565 GGT-GTT Gly-Val Mackay
K.,1993b
565 GGT-AGT Gly-Ser Bateman
J.F.,1992
586 GGT-GTT Gly-Val Lund
A.M.,1997a
589 GGC-AGC Gly-Ser Forlino
A.,1994
598 GGT-AGT Gly-Ser Westerhausen A.,1990
618 CGT-CAT Arg-His Superti-Furga A.,1994
631 GGC-AGC Gly-Ser Westerhausen A.,1990
637 GGC-GTC Gly-Val Tsuneyoshi T.,1991
643 GGC-AGC Gly-Ser Lund
A.M.,1997b
661 GGT-AGT Gly-Ser Nuytinck L.,1996
667 GGA-AGA Gly-Arg Bateman
J.F.,1988
691 GGT-TGT Gly-Cys Steinmann B.,1991
748 GGT-TGT Gly-Cys Vogel
B.E.,1987
Vogel
B.E.,1988
802 GGT-GTT Gly-Val Bonaventure J.,1992
832 GGT-AGT Gly-Ser Marini
J.C.,1989
844 GGT-GTT Gly-Val Korkko
J.,1997
844 GGT-AGT Gly-Ser Pack
M.,1989
847 GGA-AGA Gly-Arg Wallis
G.A.,1990
859 GGT-AGT Gly-Ser Rose
N.J.,1994
862 GGC-AGC Gly-Ser Virdi
A.S.,1994
Namikawa C.,1995
871 GGT-AGT Gly-Ser Lund
A.M.,1997b
880 GGC-AGC Gly-Ser Lund
A.M.,1997b
883 GGC-GAC Gly-Asp Cohn
D.H.,1990a
883 GGC-AGC Gly-Ser Lightfoot S.J.,1994
898 GGT-AGT Gly-Ser Lund
A.M.,1997b
901 GGC-AGC Gly-Ser Mottes
M.,1992
904 GGC-TGC Gly-Cys Constantinou C.D.,1989
Constantinou C.D.,1990
910 GGA-GCA Gly-Ala Valli
M.,1993b
913 GGC-AGC Gly-Ser Cohn
D.H.,1990b
928 GGC-GCC Gly-Ala Lamande
S.R.,1989
946 GGC-TGC Gly-Cys Kurosaka D.,1994
964 GGT-AGT Gly-Ser Wallis
G.A.,1989
973 GGC-GTC Gly-Val Lamande
S.R.,1989
973 GGC-AGC Gly-Ser Korkko
J.,1997
976 GGA-AGA Gly-Arg Lamande
S.R.,1989
988 GGT-TGT Gly-Cys Cohn
D.H.,1986
1003 GGC-AGC Gly-Ser Pruchno
C.J.,1991
1006 GGA-GTA Gly-Val Lamande
S.R.,1989
1009 GGT-GTT Gly-Val Cohn
D.H.,1990b
1009 GGT-AGT Gly-Ser Cohn
D.H.,1990b
1017 GGT-TGT Gly-Cys Labhard
M.E.,1988
1099 GAC-CAC Asp-His Chessler S.D.,1993
1134 TGG-TGT Trp-Cys Bateman
J.F.,1993
1210 CTG-CGG Leu-Arg Chessler S.D.,1993
1286 CTG-CCG Leu-Pro Oliver
J.E.,1996
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3) nonsense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
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42 CGA-TGA Arg-Ter Korkko
J.,1998
183 CGA-TGA Arg-Ter Korkko
J.,1998
237 CGA-TGA Arg-Ter Willing
M.C.,1996
519 CGA-TGA Arg-Ter Willing
M.C.,1996
963 CGA-TGA Arg-Ter Willing
M.C.,1994
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