Табл. OTC m
Идентифицированные мутации в гене OTC человека
1) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
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1 ATG-GTG Met-Val Leibundgut
E.O.,1997
26 CGG-CAG Arg-Gln Grompe
M.,1991
39 GGC-TGC Gly-Cys Calvas.,1997
40 CGT-CAT Arg-His Tuchman
M.,1994a
40 CGT-TGT Arg-Cys Leibundgut
E.O.,1995
43 CTC-TTC Leu-Phe Leibundgut
E.O.,1997
44 ACT-ATT Thr-Ile Yoo
H.W.,1996
45 CTA-CCA Leu-Pro Grompe
M.,1991
47 AAC-ATC Asn-Ile Tuchman
M.,1997
50 GGA-AGA Gly-Arg Tuchman
M.,1997
55 TAT-GAT Tyr-Asp Nishiyori.,1997
56 ATG-ACG Met-Thr Tuchman
M.,1997
60 TCA-TTA Ser-Leu Tuchman
M.,1995b
63 CTG-CCG Leu-Pro Leibundgut
E.O.,1997
79 GGG-GAG Gly-Glu Tuchman
M.,1993
83 GGC-CGC Gly-Arg Tuchman
M.,1997
87 GAG-AAG Glu-Lys Feldmann
D.,1992
88 AAA-AAT Lys-Asn Tuchman
M.,1993
92 CGA-CAA Arg-Gln Grompe
M.,1991
93 ACA-GCA Thr-Ala Tuchman
M.,1995a
94 AGA-ACA Arg-Thr Tuchman
M.,1993
100 GGC-GAC Gly-Asp Leibundgut
E.O.,1997
102 GCA-GAA Ala-Glu Tuchman
M.,1995b
109 Arg-Glu Strautnieks
S.,1991
Lee
J.T.,1989
111 CTT-CCT Leu-Pro Grompe
M.,1991
117 CAT-CGT His-Arg Satoh.,1992
117 CAT-CTT His-Leu Tuchman
M.,1994b
125 ACG-ATG Thr-Met Gilbert-Dussardier B.,1996
126 GAC-GGC Asp-Gly Matsuura
T.,1994
129 CGT-CAT Arg-His Matsuura
T.,1994;
Tuchman
M.,1994a
129 CGT-CTT Arg-Leu Strautnieks
S.,1993
139 TTG-TCG Leu-Ser Tuchman
M.,1997
140 GCT-CCT Ala-Pro Tsai
M.Y.,1993
141 CGA-CAA Arg-Gln Maddalena
A.,1988
141 CGA-CCA Arg-Pro Tuchman
M.,1997
148 TTG-TTC Leu-Phe Komaki
S.,1997
159 ATT-ACT Ile-Thr Garcia-Perez M.A.,1995
161 AAT-AGT Asn-Ser Tuchman
M.,1995a
162 GGG-AGG Gly-Arg Feldmann
D.,1992
168 CAT-CGT His-Arg Vella.,1996
168 CAT-CAA His-Gln Tuchman
M.,1997
172 ATC-ATG Ile-Met Matsuura
T.,1994
174 GCT-CCT Ala-Pro Tuchman
M.,1993
175 GAT-GTT Asp-Val Tuchman
M.,1997
176 TAC-TGC Tyr-Cys Leibundgut
E.O.,1996a ;
Leibundgut
E.O.,1997
178 ACG-ATG Thr-Met Leibundgut
E.O.,1995
182 CAC-CTC His-Leu Tuchman
M.,1994b
183 TAT-TGT Tyr-Cys Tuchman
M.,1993
183 TAT-GAT Tyr-Asp Leibundgut
E.O.,1997
188 GGT-CGT Gly-Arg Gilbert-Dussardier B.,1996
192 AGC-AGG Ser-Arg Hoshide
R.,1993
195 GGG-AGG Gly-Arg Tuchman
M.,1994a
196 GAT-GTT Asp-Val Hoshide
R.,1993
201 CTG-CCG Leu-Pro Shimadzu.,1997
202 CAC-TAC His-Tyr Tuchman
M.,1997
203 TCC-TGC Ser-Cys Tuchman
M.,1994b
207 AGC-AGA Ser-Arg Shimadzu.,1997
208 GCA-ACA Ala-Thr Van
Diggelon O.P.,1996
209 GCG-GTG Ala-Val Garcia-Perez M.A.,1995
213 ATG-AAG Met-Lys Leibundgut
E.O.,1997
214 CAC-TAC His-Tyr Yoo
H.W.,1996
216 CAG-GAG Gln-Glu Grompe
M.,1989
220 CCA-GCA Pro-Ala Leibundgut
E.O.,1996a ;
Leibundgut
E.O.,1997
225 CCG-CGG Pro-Arg Garcia-Perez M.A.,1997
225 CCG-CTG Pro-Leu Hentzen
D.,1991
225 CCG-ACG Pro-Thr Tuchman
M.,1994a
242 ACC-ATC Thr-Ile Tuchman
M.,1997
244 CTG-CAG Leu-Gln Calvas.,1997
247 ACA-AAA Thr-Lys Tuchman
M.,1995a
263 GAC-AAC Asp-Asn Tuchman
M.,1997
264 ACT-ATT Thr-Ile Shimadzu.,1997
264 ACT-GCT Thr-Ala Hoshide
R.,1993
267 AGC-CGC Ser-Arg Shimadzu.,1997
268 ATG-ACG Met-Thr Hoshide
R.,1993
270 CAA-CGA Gln-Arg Tuchman
M.,1993
277 CGG-CAG Arg-Gln Tuchman
M.,1994a
277 CGG-TGG Arg-Trp Finkelstein
J.E.,1990
302 CAC-CTC His-Leu Gilbert-Dussardier B.,1996
302 CAC-CAG His-Gln Tuchman
M.,1997
302 CAC-TAC His-Tyr Leibundgut
E.O.,1996a
303 TGC-TAC Cys-Tyr Tuchman
M.,1997
303 TGC-CGC Cys-Arg Calvas.,1997
304 TTG-TTT Leu-Phe Tuchman
M.,1992
320 CGA-CTA Arg-Leu Grompe
M.,1991
330 AGA-GGA Arg-Gly Tuchman
M.,1997
337 GTC-CTC Val-Leu Matsuda
I.,1997
339 GTG-CTG Val-Leu Tuchman
M.,1997
340 TCC-CCC Ser-Pro Leibundgut
E.O.,1997
343 ACA-AAA Thr-Lys Tuchman
M.,1995a
345 TAC-GAC Tyr-Asp Tuchman
M.,1992
354 TTT-TGT Phe-Cys Tuchman
M.,1997
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2) nonsense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
-------------------------------------------------------------------------
23 CGA-TGA Arg-Ter Grompe
M.,1991
32 CAA-TAA Gln-Ter Leibundgut
E.O.,1997
50 GGA-TGA Gly-Ter Feldmann
D.,1992
92 CGA-TGA Arg-Ter Grompe
M.,1991
141 CGA-TGA Arg-Ter Hata
A.,1989
Hata
A.,1991
144 AAA-TAA Lys-Ter Tuchman
M.,1995a
154 GAA-TAA Glu-Ter Grompe
M.,1989
164 TCA-TGA Ser-Ter Hoshide
R.,1993
167 TAC-TAA Tyr-Ter Garcia-Perez M.A.,1995
167 TAC-TAG Tyr-Ter Shimadzu.,1997
193 TGG-TAG Trp-Ter Shimadzu.,1997
310 GAA-TAA Glu-Ter Tuchman
M.,1993
320 CGA-TGA Arg-Ter Demmer
L.A.,1996
332 TGG-TGA Trp-Ter Matsuura
T.,1994
348 CAG-TAG Gln-Ter Leibundgut
E.O.,1997
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