Таблица 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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