Табл. Col VII AI m
Идентифицированные мутации в гене Col VII A1 человека
1) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература
:
: леотидов : кислот :
:
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1557 GGA-AGA Gly-Arg Christiano
A.M.,1996b
1782 GGA-AGA Gly-Arg Christiano
A.M.,1996d
1982 GGG-TGG Gly-Trp Hovnanian
A.,1997a
2003 GGG-AGG Gly-Arg Christiano
A.M.,1996e
2008 CGT-GGT Arg-Gly Hovnanian
A.,1997a
2009 GGA-AGA Gly-Arg Winberg
J.O.,1997
2025 GGC-GCC Gly-Ala Hovnanian
A.,1997a
2034 GGG-AGG Gly-Arg Kon
A.,1997a
2040 GGT-AGT Gly-Ser Christiano
A.M.,1994d
2043 GGG-AGG Gly-Arg Christiano
A.M.,1995b
2049 GGG-GAG Gly-Glu Hovnanian
A.,1997a
2055 GGA-GAA Gly-Glu Christiano
A.M.,1996b
2063 CGG-GGG Arg-Gly Hovnanian
A.,1997a
2063 CGG-TGG Arg-Trp Hovnanian
A.,1997a
2073 GGC-GAC Gly-Asp Dunnill
M.G.S.,1996
2076 GGC-GAC Gly-Asp Kon
A.,1997a
2079 GGA-GAA Gly-Glu Kon
A.,1997b
2242 GGG-AGG Gly-Arg Lee
J.Y.Y.,1997
2351 GGA-AGA Gly-Arg Christiano
A.M.,1996c
2569 GGT-CGT Gly-Arg Christiano
A.M.,1996b
2575 GGG-AGG Gly-Arg Shimizu.,1996
2623 GGC-TGC Gly-Cys Christiano
A.M.,1995c
2653 GGG-AGG Gly-Arg Christiano
A.M.,1996b
2671 GGG-GTG Gly-Val Kon
A.,1997b
2674 GGC-CGC Gly-Arg Christiano
A.M.,1996b
2749 GGA-AGA Gly-Arg Christiano
A.M.,1996b
2798 ATG-AAG Met-Lys Christiano
A.M.,1993
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2) nonsense мутации
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Кодон :Замена нук-:Замена амино-: Литература
:
: леотидов : кислот :
:
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185 CGA-TGA Arg-Ter Hovnanian
A.,1997a
226 CGA-TGA Arg-Ter Christiano A.M.,1996f
236 CGA-TGA Arg-Ter Hovnanian
A.,1994
251 CAG-TAG Gln-Ter Christiano A.M.,1996a
281 CAG-TAG Gln-Ter Hovnanian
A.,1997a
311 TAC-TAA Tyr-Ter Christiano A.M.,1995a
578 CGA-TGA Arg-Tem Dunnill
M.G.S.,1994
796 TGG-TAG Trp-Ter Christiano A.M.,1996a
796 TGG-TGA Trp-Ter Christiano A.M.,1994c
1340 CGA-TGA Arg-Ter Hovnanian
A.,1994
1343 CGA-TGA Arg-Ter Hovnanian
A.,1994
2216 GGA-TGA Gly-Ter Hovnanian
A.,1997a
2471 CGA-TGA Arg-Ter Christiano A.M.,1996b
2610 CGA-TGA Arg-Ter Hovnanian
A.,1997a
2814 CGA-TGA Arg-Ter Christiano A.M.,1996a
2857 GAG-TAG Glu-Ter Shimizu.,1996
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