Табл. FBN m
Идентифицированные мутации в гене фибрилина (FBN1) человека
1) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
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111 TGT-CGT Cys-Arg Hayward
C.,1997a
122 CGC-TGC Arg-Cys Stahl-Hallengren C.,1994
129 TGC-TAC Cys-Tyr Nijbroek G.,1995
166 TGT-TCT Cys-Ser Collod-Beroud G.,1997
166 TGT-TTT Cys-Phe Nijbroek G.,1995
217 TGG-GGG Trp-Gly Karttunen L.,1994
267 GGG-AGG Gly-Arg Karttunen L.,1994
476 TGC-GGC Cys-Gly Piersall L.D.,1994
490 GAT-TAT Asp-Tyr Hayward
C.,1997b
545 CGC-TGC Arg-Cys Hayward
C.,1997a
548 AAC-ATC Asn-Ile Dietz
H.C.,1993
587 TGT-TAT Cys-Tyr Booms
P.,1997
627 CGT-TGT Arg-Cys Hayward
C.,1994a
661 TGC-CGC Cys-Arg Collod-Beroud G.,1997
705 GCG-ACG Ala-Thr Ades
L.C.,1996
711 TGC-TAC Cys-Tyr Ades
L.C.,1996
723 GAT-GCT Asp-Ala Dietz
H.C.,1993
746 TAT-TGT Tyr-Cys Nijbroek G.,1995
750 TGC-GGC Cys-Gly Hayward
C.,1994a
862 TGT-CGT Cys-Arg Tynan
K.,1993
926 TGT-CGT Cys-Arg Nijbroek G.,1995
984 GTC-ATC Val-Ile Grau.,1996
1013 GGA-AGA Gly-Arg Nijbroek G.,1995
1023 AAG-AAC Lys-Asn Kainulainen K.,1994
1043 AAG-AGG Lys-Arg Wang
M.,1997
1048 ATT-ACT Ile-Thr Lonnovist L.,1996
1053 TGC-CGC Cys-Arg Putnam
E.A.,1996
1055 TGT-GGT Cys-Gly Ades
L.C.,1996
1071 ATT-AGT Ile-Ser Wang
M.,1996
1072 GAC-GGC Asp-Gly Putnam
E.A.,1996
1073 GAA-GAT Glu-Asp Wang
M.,1996
1073 GAA-AAA Glu-Lys Nijbroek G.,1995
1074 TGC-CGC Cys-Arg Dietz
H.C.,1995
1086 TGT-TGG Cys-Trp Mathews
K.,1995
1117 TGT-TAT Cys-Tyr Tynan
K.,1993
1117 TGT-GGT Cys-Gly Putnam
E.A.,1996
1127 GGT-AGT Gly-Ser Francke
U.,1995
1131 AAC-TAC Asn-Tyr Wang
M.,1997
1137 CGC-CCC Arg-Pro Dietz
H.C.,1991
1153 TGT-TAT Cys-Tyr Ades
L.C.,1996
1155 GAC-AAC Asp-Asn Milewicz D.M.,1996
1170 CGT-CAT Arg-His Hayward
C.,1994b
1171 TGC-TGG Cys-Trp Hayward
C.,1997a
1173 AAC-AAG Asn-Lys Hayward
C.,1997a
1223 TGT-TAT Cys-Tyr Hewett
D.R.,1994
1242 TGT-TAT Cys-Tyr Kainulainen K.,1994
1249 TGT-TCT Cys-Ser Dietz
H.C.,1995
1382 AAT-AGT Asn-Ser Nijbroek G.,1995
1404 GAC-TAC Asp-Tyr Hayward
C.,1997a
1513 TGC-CGC Cys-Arg Kainulainen K.,1994
1580 GTG-GGG Val-Gly Kainulainen K.,1994
1589 TGT-TTT Cys-Phe Tynan
K.,1993
1610 TGC-GGC Cys-Gly Hayward
C.,1997a
1663 TGT-CGT Cys-Arg Dietz
H.C.,1992
1837 CCC-TCC Pro-Ser Milewicz D.M.,1996
1893 AAT-AAA Asn-Lys Hayward
C.,1997a
1928 TGT-CGT Cys-Arg Nijbroek G.,1995
2099 TGC-TGG Cys-Trp Hayward
C.,1997a
2111 TGT-TAT Cys-Tyr Hayward
C.,1997a
2127 GAT-GAA Asp-Glu Kainulainen K.,1994
2144 AAT-AGT Asn-Ser Hewett
D.R.,1993
2151 TGC-TGG Cys-Trp Kainulainen K.,1994
2221 TGT-TCT Cys-Ser Dietz
H.C.,1992
2258 TGT-CGT Cys-Arg Hayward
C.,1997a
2282 CGG-TGG Arg-Trp Hayward
C.,1997a
2307 TGC-TCC Cys-Ser Dietz
H.C.,1995
2447 GAG-AAG Glu-Lys Kainulainen K.,1994
2489 TGT-CGT Cys-Arg Hayward
C.,1997a
2511 TGT-CGT Cys-Arg Kainulainen K.,1994
2623 CAC-CCC His-Pro Collod-Beroud G.,1997
2627 GGG-AGG Gly-Arg Dietz
H.C.,1995
2680 CGC-TGC Arg-Cys Grossfield J.,1993
2726 CGG-TGG Arg-Trp Milewicz D.M.,1995
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2) nonsense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
----------------------------------------------------------------------
565 CGA-TGA Arg-Ter Quan
E.,1995
994 GAG-TAG Glu-Ter Karttunen L.,1997
2113 TAT-TAG Tyr-Ter Dietz
H.C.,1995
2262 CAA-TAA Gln-Ter Nijbroek G.,1995
2756 TGG-TGA Trp-Ter Kainulainen K.,1992
2776 CGA-TGA Arg-Ter Hayward
C.,1994c
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