Табл. Col IV AV m
Идентифицированные мутации в гене коллагена IV типа альфа V
1) missense мутации
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Кодон:Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
1 ATG-GTG Met-Val Renieri
A.,1996
54 GGT-GAT Gly-Asp Turco
A.E.,1995
129 GGA-GAA Gly-Glu Lemmink
H.H.,1997
129 GGA-GTA Gly-Val Heiskari
N.,1996
174 GGA-CGA Gly-Arg Renieri
A.,1996
177 GGT-CGT Gly-Arg Renieri
A.,1996
204 GGC-GTC Gly-Val Knebelmann
B.,1996
216 GGG-AGG Gly-Arg Heiskari
N.,1996
219 GGC-AGC Gly-Ser Renieri
A.,1996
230 GGT-CGT Gly-Arg Knebelmann
B.,1996
239 GGG-GAG Gly-Glu Knebelmann
B.,1996
264 GGT-CGT Gly-Arg Knebelmann
B.,1996
289 GGT-GTT Gly-Val Guo
C.,1995
292 GGA-GTA Gly-Val Heiskari
N.,1996
298 GGT-AGT Gly-Ser Knebelmann
B.,1996
325 GGA-GAA Gly-Glu Renieri
A.,1992a
325 GGA-AGA Gly-Arg Knebelmann
B.,1992
365 GGG-GAG Gly-Glu Heiskari
N.,1996
371 GGA-GAA Gly-Glu Renieri
A.,1996
374 GGA-GCA Gly-Ala Renieri
A.,1996
383 GGC-GAC Gly-Asp Kawai
S.,1996
400 GGA-GAA Gly-Glu Boye
E.,1995
406 GGT-GTT Gly-Val Boye
E.,1995
409 GGT-GAT Gly-Asp Renieri
A.,1996
412 GGA-GTA Gly-Val Knebelmann
B.,1996
420 GGA-GAA Gly-Glu Knebelmann
B.,1996
423 GGA-GAA Gly-Glu Knebelmann
B.,1996
444 ATT-AGT Ile-Ser Kawai
S.,1996
466 GGA-GAA Gly-Glu Kawai
S.,1996
491 GGG-GAG Gly-Glu Knebelmann
B.,1996
494 GGT-GAT Gly-Asp Renieri
A.,1996
497 GGT-TGT Gly-Cys Knebelmann
B.,1996
521 GGT-TGT Gly-Cys Zhou
J.,1992a
524 GGT-GAT Gly-Asp Knebelmann
B.,1996
567 GGA-GCA Gly-Ala Renieri
A.,1996
609 GGT-GTT Gly-Val Kawai
S.,1996
609 GGT-CGT Gly-Arg Knebelmann
B.,1996
621 GGT-TGT Gly-Cys Knebelmann
B.,1996
632 GGT-GAT Gly-Asp Knebelmann
B.,1996
638 GGT-GCT Gly-Ala Boye
E.,1995
638 GGT-GTT Gly-Val Boye
E.,1995
653 GGG-AGG Gly-Arg Boye
E.,1995
681 GGT-GAT Gly-Asp Knebelmann
B.,1996
684 GGA-GTA Gly-Val Kawai
S.,1996
740 GGG-GAG Gly-Glu Kawai
S.,1996
772 GGT-GAT Gly-Asp Kawai
S.,1996
796 GGA-AGA Gly-Arg Boye
E.,1995
802 GGA-AGA Gly-Arg Knebelmann
B.,1996
811 GGA-GTA Gly-Val Knebelmann
B.,1996
852 GGA-AGA Gly-Arg Kawai
S.,1996
866 GGG-GAG Gly-Glu Renieri
A.,1996
869 GGA-AGA Gly-Arg Boye
E.,1995
872 GGT-CGT Gly-Arg Boye
E.,1995
953 GGA-GTA Gly-Val Knebelmann
B.,1996
1015 GGA-GAA Gly-Glu Knebelmann
B.,1996
1015 GGA-GTA Gly-Val Knebelmann
B.,1996
1036 GGG-GTG Gly-Val Knebelmann
B.,1996
1039 GGT-AGT Gly-Ser Knebelmann
B.,1996
1066 GGT-CGT Gly-Arg Knebelmann
B.,1996
1104 GGT-GTT Gly-Val Kawai
S.,1996
1143 GGC-GAC Gly-Asp Zhou
J.,1992b
1143 GGC-AGC Gly-Ser Renieri
A.,1994b
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2) nonsense мутации
------------------------------------------------------------------------
Кодон:Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
287 GAG-TAG Glu-Ter Heiskari
N.,1996
325 GGA-TGA Gly-Ter Kawai
S.,1996
373 CGA-TGA Arg-Ter Renieri
A.,1996
1016 CAG-TAG Gln-Ter Knebelmann
B.,1996
1057 GGA-TGA Gly-Ter Knebelmann
B.,1996
1071 TCA-TGA Ser-Ter Lemmink
H.H.,1997
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