Табл. CFTR m
Идентифицированные мутации в гене CFTR человека
1) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература
: леотидов : кислот :
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1 ATG-AAG Met-Lys Claustres M.,1993
1 ATG-ATT Met-Ile Hughes
D.J.,1996
1 ATG-GTG Met-Val Cheadle J.P.,1993a
3 AGG-TGG Arg-Trp Savov
A.,1994a
5 CCT-CTT Pro-Leu Casals
T.,1997a
19 TGG-TGT Trp-Cys Macek
M.,1997a
27 GGA-GAA Gly-Glu Bienvenu T.,1994a
31 CGC-CTC Arg-Leu Zielenski J.,1995a
42 TCT-TTT Ser-Phe Ferec
C.,1995
44 GAT-GGT Asp-Gly Fanen
P.,1992
46 GCT-GAT Ala-Asp Tzetis
M.,1997
50 TCT-TAT Ser-Tyr Zielenski J.,1997
56 GAA-AAA Glu-Lys Dork
T.,1997
57 TGG-GGG Trp-Gly Brancolini V.,1995
58 GAT-AAT Asp-Asn Dork
T.,1997
67 CCT-CTT Pro-Leu Claustres M.,1993
74 CGG-TGG Arg-Trp Claustres M.,1993
75 CGA-CTA Arg-Leu Chillon M.,1995a
85 GGA-GAA Gly-Glu Zielenski J.,1991a
85 GGA-GTA Gly-Val Casals
T.,1997a
87 TTT-CTT Phe-Leu Bienvenu T.,1994b
88 TTA-TCA Leu-Ser Hughes
D.J.,1996
91 GGG-AGG Gly-Arg Guillermit H.,1993
92 GAA-AAA Glu-Lys Shackleton S.,1992b
Nunes
V.,1993
98 CAG-CGG Gln-Arg Romey
M.C.,1995
108 TCC-TTC Ser-Phe Seydewitz H.H.,1995
109 TAT-TGT Tyr-Cys Schaedel C.,1994
110 GAC-CAC Asp-His Dean
M.,1990
117 CGC-CAC Arg-His Dean
M.,1990
117 CGC-CCC Arg-Pro Reis
J.,1993
117 CGC-CTC Arg-Leu Ferec
C.,1995
117 CGC-TGC Arg-Cys Dork
T.,1994a
120 GCG-ACG Ala-Thr Chillon M.,1994a
126 GGC-GAC Gly-Asp Wagner
K.,1994
139 CAC-CGC His-Arg Ferec
C.,1995
141 GCC-GAC Ala-Asp Gouya
L.,1997
148 ATT-ACT Ile-Thr Tsui
L.C.,1992
149 GGA-AGA Gly-Arg Mercier B.,1995a
166 AAG-GAG Lys-Glu Macek
M.,1997b
175 ATA-GTA Ile-Val Romey
M.C.,1994
178 GGA-AGA Gly-Arg Zielenski J.,1991a
192 GAT-GGT Asp-Gly Audrezet M.P.,1994
193 GAA-AAA Glu-Lys Mercier B.,1995a
199 CAT-CAG His-Gln Tsui
L.C.,1992
199 CAT-TAT His-Tyr Dork
T.,1994a
205 CCT-TCT Pro-Ser Chillon M.,1993
206 TTG-TGG Leu-Trp Claustres M.,1993
225 TGT-CGT Cys-Arg Fanen
P.,1992
232 GTC-GAC Val-Asp Casals
T.,1997a
239 GGG-AGG Gly-Arg Bienvenu T.,1995a
258 AGA-GGA Arg-Gly Mercier B.,1995a
265 ATG-AGG Met-Arg Dork
T.,1997
287 AAC-TAC Asn-Tyr Shrimpton A.E.,1997
297 CGG-CAG Arg-Gln Tsui
L.C.,1992
297 CGG-TGG Arg-Trp Dork
T.,1997
311 TTC-CTC Phe-Leu Ferec
C.,1992
314 GGG-GAG Gly-Glu Tsui
L.C.,1992
Golla
A.,1994
314 GGG-CGG Gly-Arg Nasr
S.Z.,1996
334 CGG-CTG Arg-Leu Dork
T.,1997
334 CGG-TGG Arg-Trp Gasparini P.,1991
336 ATA-AAA Ile-Lys Cuppens H.,1993
338 ACC-ATC Thr-Ile Saba
L.,1993
346 CTG-CCG Leu-Pro Boteva
K.,1994
347 CGC-CAC Arg-His Cremonesi L.,1992
347 CGC-CCC Arg-Pro Dean
M.,1990
347 CGC-CTC Arg-Leu Audrezet M.P.,1993a
348 ATG-AAG Met-Lys Audrezet M.P.,1993b
349 GCG-GTG Ala-Val Audrezet M.P.,1993a
351 ACT-AGT Thr-Ser Mercier B.,1993a
352 CGG-CAG Arg-Gln Cremonesi L.,1992
359 CAA-AAA Gln-Lys Shoshani T.,1993
360 ACA-AAA Thr-Lys Shoshani T.,1993
364 TCT-CCT Ser-Pro Macek
M.,1997a
375 TTA-TTC Leu-Phe Jezequel P.,1996
455 GCG-GAG Ala-Glu Kerem
B.,1990
456 GTT-TTT Val-Phe Dork
T.,1994b
458 GGA-GTA Gly-Val Tsui
L.C.,1992
480 GGT-TGT Gly-Cys Tsui
L.C.,1992
492 TCT-TTT Ser-Phe Ferec
C.,1992
493 CAG-CGG Gln-Arg Savov
A.,1994a
499 CCT-GCT Pro-Ala Arduino C.,1998
504 GAA-CAA Glu-Gln Tsui
L.C.,1992
506 ATC-ACC Ile-Thr Desgeoges M.,1995
506 ATC-AGC Ile-Ser Deufel
A.,1994
506 ATC-ATG Ile-Met Chevalier-Porst F.,1994
506 ATC-GTC Ile-Val Kobayashi K.,1990
508 TTT-TGT Phe-Cys Kobayashi K.,1990
520 GTC-TTC Val-Phe Jones
C.T.,1992
534 GCA-GAA Ala-Glu Audrezet M.P.,1993a
549 AGT-AAT Ser-Asn Cutting G.R.,1990a
549 AGT-ATT Ser-Ile Kerem
B.,1990
549 AGT-AGG Ser-Arg Kerem
B.,1990
549 AGT-CGT Ser-Arg Sangiuolo F.,1991
551 GGT-GAT Gly-Asp Kerem
B.,1990
551 GGT-AGT Gly-Ser Tsui
L.C.,1992
553 CGA-CAA Arg-Gln Tsui
L.C.,1992
554 GCA-GAA Ala-Glu Audrezet M.P.,1993a
558 TTA-TCA Leu-Ser Tsui
L.C.,1992
559 GCA-ACA Ala-Thr Cutting G.R.,1990a
560 AGA-AAA Arg-Lys Ferec
C.,1992
560 AGA-ACA Arg-Thr Kerem
B.,1990
560 AGA-AGC Arg-Ser Malone
G.,1998
561 GCA-GAA Ala-Glu Casals
T.,1997a
562 GTA-CTA Val-Leu Hughes
D.J.,1996
563 TAC-AAC Tyr-Asn Kerem
B.,1990
563 TAC-GAC Tyr-Asp Macek
M.,1997a
568 TTG-TTT Leu-Phe Dork
T.,1997
569 TAT-TGT Tyr-Cys Petreska L.,1996
569 TAT-GAT Tyr-Asp Malone
G.,1998
571 TTA-TCA Leu-Ser Casals
T.,1997a
572 GAC-AAC Asp-Asn Verlingue C.,1995
574 CCT-CAT Pro-His Kerem
B.,1990
576 GGA-GCA Gly-Ala Anguiano A.,1992
579 GAT-GGT Asp-Gly Brancolini V.,1995
582 ACA-AGA Thr-Arg Chillon M.,1994a
614 GAC-GGC Asp-Gly Audrezet M.P.,1993b
618 ATT-ACT Ile-Thr Macek
M.,1997a
619 TTG-TCG Leu-Ser Dork
T.,1994a
628 GGG-AGG Gly-Arg Fanen
P.,1992
648 GAT-GTT Asp-Val Mercier B.,1994a
665 ACC-TCC Thr-Ser Messaoud T.,1996
668 CGT-TGT Arg-Cys Chillon M.,1995a
693 TTT-CTT Phe-Leu Audrezet M.P.,1993b
750 CCT-CTT Pro-Leu Orozco
L.,2000
766 AGG-ATG Arg-Met Ravnik-Glavac M.,2000
792 CGA-GGA Arg-Gly Ravnik-Glavac M.,2000
800 GCA-GGA Ala-Gly Mercier B.,1995a
822 GAA-AAA Glu-Lys Mercier B.,1993a
851 CGA-CTA Arg-Leu Casals
T.,1997a
866 TGC-TAC Cys-Tyr Tsui
L.C.,1992
912 TCG-TTG Ser-Leu Ghanem
N.,1994
913 TAT-TGT Tyr-Cys Vidaud
M.,1990
917 TAC-TGC Tyr-Cys Hughes
D.J.,1996
919 TAC-TGC Tyr-Cys Savov
A.,1994a
927 CTT-CCT Leu-Pro Hermans.,1994
933 AGA-AGT Arg-Ser Dork
T.,1997
938 GTG-GGG Val-Gly Dork
T.,1997
945 TCG-TTG Ser-Leu Claustres M.,1993
949 CAC-TAC His-Tyr Ghanem
N.,1994
952 ATG-ATC Met-Ile Onay
T.,1998
970 GGT-CGT Gly-Arg Cuppens H.,1993
977 TCC-CCC Ser-Pro Hughes
D.J.,1996
979 GAT-GCT Asp-Ala Dork
T.,1997
979 GAT-GTT Asp-Val Plouvier.,1997
980 ATA-AAA Ile-Lys Bienvenu T.,1996a
997 TTG-TTC Leu-Phe Fanen
P.,1992
1005 ATA-AGA Ile-Arg Dork
T.,1994a
1006 GCA-GAA Ala-Glu Ferec
C.,1995
1013 CCC-CTC Pro-Leu Onay
T.,1998
1027 ATT-ACT Ile-Thr Hughes
D.J.,1996
1028 ATG-ATT Met-Ile Onay
T.,1998
1032 TAT-TGT Tyr-Cys Dork
T.,1997
1052 TTC-GTC Phe-Val Mercier B.,1993b
1054 CAT-GAT His-Asp Mercier B.,1994b
1060 AAA-ACA Lys-Thr Casals
T.,1995
1061 GGA-AGA Gly-Arg Bienvenu T.,1996b
1061 GGA-CGA Gly-Arg Mercier B.,1993b
1065 CTT-CCT Leu-Pro Tsui
L.C.,1992
1065 CTT-CGT Leu-Arg Casals
T.,1997b
1066 CGT-CAT Arg-His Ferec
C.,1992
1066 CGT-CTT Arg-Leu Mercier B.,1993b
1066 CGT-TGT Arg-Cys Fanen
P.,1992
1067 GCC-GTC Ala-Val Jezequel P.,1995
1067 GCC-ACC Ala-Thr Ferec
C.,1992
1069 GGA-AGA Gly-Arg Savov
A.,1994a
1070 CGG-CAG Arg-Gln Mercier B.,1993b
1070 CGG-CCG Arg-Pro Shrimpton A.E.,1997
1070 CGG-TGG Arg-Trp Jezequel P.,1995
1071 CAG-CCG Gln-Pro Ghanem
N.,1994
1074 TTT-TTA Phe-Leu Casals
T.,1997a
1077 CTG-CCG Leu-Pro Tsui
L.C.,1992
1085 CAT-CGT His-Arg Mercier B.,1993b
1089 TGG-CGG Trp-Arg Zielenski J.,1995a
1098 TGG-TGT Trp-Cys Orozco
L.,2000
1100 CAA-CCA Gln-Pro Chillon M.,1994a
1101 ATG-AAG Met-Lys Zielenski J.,1993
1101 ATG-AGG Met-Arg Mercier B.,1993b
1123 GGA-CGA Gly-Arg Hughes
D.J.,1996
1139 ATC-GTC Ile-Val Teng
H.,1994
1152 GAT-CAT Asp-His Chillon M.,1995a
1153 GTG-GAG Val-Glu Dork
T.,1997
1200 AAA-GAA Lys-Glu Fanen
P.,1992
1203 ATC-GTC Ile-Val Cutting G.R.,1992
1234 ATA-GTA Ile-Val Claustres M.,1992a
1235 AGT-AGG Ser-Arg Cuppens H.,1993
1244 GGA-GAA Gly-Glu Devoto
M.,1991
1244 GGA-GTA Gly-Val Savov
A.,1994b
1249 GGG-GAG Gly-Glu Greil
I.,1994
1249 GGG-AGG Gly-Arg Dijkstra D.J.W.,1994
1251 AGT-AAT Ser-Asn Kalin
N.,1992a
1255 TCA-CCA Ser-Pro Lissens W.,1992
1270 GAT-AAT Asp-Asn Tsui
L.C.,1992
1282 TGG-CGG Trp-Arg Ivaschenko T.E.,1993
1283 AGG-AAG Arg-Lys Chevalier-Porst F.,1994
1283 AGG-ATG Arg-Met Cheadle J.P.,1992
1286 TTT-TCT Phe-Ser Dorval
I.,1993
1291 CAG-CGG Gln-Arg Dork
T.,1994a
1291 CAG-CAC Gln-His Jones
C.T.,1992
1303 AAC-AAG Asn-Lys Osborne L.,1991
1303 AAC-CAC Asn-His Claustres M.,1992a
1349 GGC-GAC Gly-Asp Tsui
L.C.,1992
1351 AAG-GAG Lys-Glu Dork
T.,1997
1377 GAT-CAT Asp-His Costes
B.,1995a
1388 CTA-CAA Leu-Gln Dork
T.,1997
1397 GTA-GAA Val-Glu Petreska L.,1994
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2) nonsense мутации
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Кодон :Замена нук-:Замена амино-: Литература
:
: леотидов : кислот :
:
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2 CAG-TAG Gln-Ter Savov A.,1994a
4 TCG-TAG Ser-Ter Glavac D.,1993
27 GGA-TGA Gly-Ter Shackleton S.,1992a
30 CAG-TAG Gln-Ter Chillon M.,1994a
39 CAA-TAA Gln-Ter Cutting G.R.,1992
57 TGG-TGA Trp-Ter Audrezet M.P.,1993a
60 GAG-TAG Glu-Ter Tsui L.C.,1992
75 CGA-TGA Arg-Ter Dork T.,1994a
88 TTA-TAA Leu-Ter Savov A.,1994a
88 TTA-TGA Leu-Ter Macek M.,1992
92 GAA-TAA Glu-Ter Will K.,1994
98 CAG-TAG Gln-Ter Malone G.,1998
122 TAT-TAA Tyr-Ter Chevalier-Porst F.,1992
151 CAG-TAG Gln-Ter Shackleton S.,1992b
220 CAG-TAG Gln-Ter Shackleton S.,1994
247 TAC-TAG Tyr-Ter Tzetis M.,1997
276 TGC-TGA Cys-Ter Ferec C.,1995
330 GGA-TGA Gly-Ter Macek M.,1997a
401 TGG-TGA Trp-Ter Cuppens H.,1993
414 CAA-TAA Gln-Ter Dork T.,1994b
466 TCA-TAA Ser-Ter Mittre H.,1996
466 TCA-TGA Ser-Ter Deufel A.,1994
489 TCA-TAA Ser-Ter Plouvier.,1997
493 CAG-TAG Gln-Ter Kerem B.,1990
496 TGG-TAG Trp-Ter Balassopoulou A.,1994
524 TGC-TGA Cys-Ter Jones C.T.,1992
525 CAA-TAA Gln-Ter Shackleton S.,1994
542 GGA-TGA Gly-Ter Kerem B.,1990
Hamosh A.,1992
552 CAA-TAA Gln-Ter Devoto M.,1991
553 CGA-TGA Arg-Ter Cutting G.R.,1990a
Hull J.,1994
568 TTG-TAG Leu-Ter Macek M.,1997b
585 GAA-TAA Glu-Ter Cremonesi L.,1992
664 GAG-TAG Glu-Ter Clavel C.,1997
673 GGA-TGA Gly-Ter Dork T.,1994a
685 CAA-TAA Gln-Ter Audrezet M.P.,1994
692 GAG-TAG Glu-Ter Casals T.,1997a
709 CGA-TGA Arg-Ter Bonizzato A.,1995
710 AAA-TAA Lys-Ter Fanen P.,1992
716 AAG-TAG Lys-Ter Audrezet M.P.,1993a
719 TTA-TAA Leu-Ter Dork T.,1994a
730 GAG-TAG Glu-Ter Cuppens H.,1993
732 TTA-TGA Leu-Ter Tzetis M.,1997
764 CGA-TGA Arg-Ter Hughes D.J.,1996
792 CGA-TGA Arg-Ter Claustres M.,1993
822 GAA-TAA Glu-Ter Tzetis M.,1997
827 GAA-TAA Glu-Ter Ferec C.,1992
830 AAG-TAG Lys-Ter Mercier B.,1993a
831 GAG-TAG Glu-Ter Hughes D.J.,1996
846 TGG-TAG Trp-Ter Cheadle J.P.,1993b
846 TGG-TGA Trp-Ter Vidaud M.,1990
851 CGA-TGA Arg-Ter White M.B.,1991a
890 CAA-TAA Gln-Ter Tsui L.C.,1992
912 TCG-TAG Ser-Ter Saba L.,1993
1059 TTA-TGA Leu-Ter Dork T.,1994a
1063 TGG-TGA Trp-Ter Fanen P.,1992
1089 TGG-TAG Trp-Ter Tsui L.C.,1992
Shoshani T.,1994
1092 TAC-TAA Tyr-Ter Tsui L.C.,1992
1098 TGG-TAG Trp-Ter Chillon M.,1994a
1104 GAA-TAA Glu-Ter Zielinski J.,1995a
1158 CGA-TGA Arg-Ter Ronchetto P.,1992
1162 CGA-TGA Arg-Ter Gasparini P.,1991
1196 TCA-TGA Ser-Ter Ivaschenko T.E.,1993
1204 TGG-TAG Trp-Ter Tsui L.C.,1992
1238 CAG-TAG Gln-Ter Audrezet M.P.,1993a
1254 TTA-TAA Leu-Ter Hughes D.J.,1996
1255 TCA-TAA Ser-Ter Tsui L.C.,1992
1281 CAG-TAG Gln-Ter Casals T.,1997a
1282 TGG-TGA Trp-Ter Kerem B.,1990
Hamosh A.,1992
1310 TGG-TAG Trp-Ter Tsui L.C.,1992
1313 CAA-TAA Gln-Ter Audrezet M.P.,1993a
1316 TGG-TAG Trp-Ter Cutting G.R.,1990b
1371 GAA-TAA Glu-Ter Cutting G.R.,1992
1412 CAA-TAA Gln-Ter Hughes D.J.,1996
1455 TCA-TGA Ser-Ter Mickle J.E.,1998
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