Табл. LDLR m
Таблица LDLR m
Идентифицированные мутации в гене рецептора липопротеина
низкой плотности (LDLR) человека
1) в регуляторной области
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Нуклеотид :Замена нуклеотидов: Литература :
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- 14 C - A Day
I.N.M.,1997
- 42 C - G Hobbs H.H.,1992
- 43 C - T Koivisto
U.M.,1994
- 44 C - T Hobbs H.H.,1992
- 45 T - C Sun
X.M.,1995a
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2) missense мутации
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Экзон:Кодон:Замена нук-:Замена амино-: Литература :
: : леотидов : кислот : :
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-12 TGG-AGG Trp-Arg Cassanelli S.,1998
-21 ATG-GTG Met-Val Lombardi
P.,1997a
-21 ATG-TTG Met-Leu Langenhoven E.,1996
6 TGT-TGG Cys-Trp Hobbs
H.H.,1992
31 TGC-TAC Cys-Tyr Hobbs
H.H.,1992
57 CGT-TGT Arg-Cys Kotze
M.J.,1997a
66 TGG-GGG Trp-Gly Leitersdorf E.,1990
68 TGC-TAC Cys-Tyr Day
I.N.M.,1997
69 GAT-GGT Asp-Gly Hobbs
H.H.,1992
69 GAT-AAT Asp-Asn Day
I.N.M.,1997
69 GAT-TAT Asp-Tyr Rubinsztein D.C.,1993
80 GAG-AAG Glu-Lys Loux
N.,1992
84 CCC-TCC Pro-Ser Vuorio
A.F.,1997
88 TGC-CGC Cys-Arg Hobbs
H.H.,1992
119 GAG-AAG Glu-Lys Hobbs
H.H.,1992
134 TGC-GGC Cys-Gly Hobbs
H.H.,1992
139 TGC-TAC Cys-Tyr Day
I.N.M.,1997
147 GAC-AAC Asp-Asn Day
I.N.M.,1997
147 GAC-CAC Asp-His Leitersdorf E.,1993
152 TGC-TGG Cys-Trp Couture.,1997
152 TGC-CGC Cys-Arg Hobbs
H.H.,1992
152 TGC-GGC Cys-Gly Schuster
H.,1995a
154 GAT-AAT Asp-Asn Graadt
van Roggen F.,1991
156 TCG-TTG Ser-Leu Hobbs
H.H.,1989
Schuster
H.,1993b
163 TGT-TAT Cys-Tyr Lee W.K.,1998
176 TGC-TAC Cys-Tyr Hobbs
H.H.,1992
176 TGC-TTC Cys-Phe Hobbs
H.H.,1992
177 TCG-TTG Ser-Leu Schuster
H.,1995a
187 GAG-AAG Glu-Lys Hobbs
H.H.,1992
198 GGC-GAC Gly-Asp Lee W.K.,1998
200 GAC-GGC Asp-Gly Hobbs
H.H.,1992
200 GAC-TAC Asp-Tyr Geisel J.,1995
201 TGC-TAC Cys-Tyr Koivisto
U.M.,1995
203 GAC-GGC Asp-Gly Hobbs
H.H.,1992
203 GAC-GTC Asp-Val Geisel J.,1995
203 GAC-AAC Asp-Asn Hobbs
H.H.,1992
205 TCT-CCT Ser-Pro Hobbs
H.H.,1992
206 GAC-GAG Asp-Glu Leitersdorf E.,1989
207 GAG-AAG Glu-Lys Leitersdorf E.,1990
207 GAG-CAG Glu-Gln Hobbs
H.H.,1992
210 TGC-GGC Cys-Gly Sundvold
H.,1996
219 GAA-AAA Glu-Lys Hobbs
H.H.,1992
227 TGC-TTC Cys-Phe Hobbs
H.H.,1992
235 GAC-GGC Asp-Gly Hobbs
H.H.,1992
235 GAC-GAA Asp-Glu Koivisto
TAC Cys-Tyr Hobbs
H.H.,1992
256 GAG-AAG Glu-Lys Ekstrom
U.,1995
265 AGC-AGA Ser-Arg Hobbs
H.H.,1992
280 GAC-GGC Asp-Gly Mavroidis.,1997
283 GAC-GAG Asp-Glu Hobbs
H.H.,1992
283 GAC-AAC Asp-Asn Leitersdorf E.,1990
283 GAC-TAC Asp-Tyr Loux
N.,1992
285 TCA-TTA Ser-Leu Hobbs
H.H.,1992
290 AAA-AGA Lys-Arg Loux
N.,1992
292 TGC-TAC Cys-Tyr Day
I.N.M.,1997
297 TGC-TAC Cys-Tyr Hobbs
H.H.,1992
297 TGC-TTC Cys-Phe Lelli
N.,1994
306 CAC-TAC His-Tyr Day
I.N.M.,1997
308 TGC-TAC Cys-Tyr Mak.,1997
308 TGC-GGC Cys-Gly Reshef
A.,1996
314 GGC-AGC Gly-Ser Hobbs
H.H.,1992
317 TGC-AGC Cys-Ser Maruyama
T.,1995
321 GAC-GAG Asp-Glu Hobbs
H.H.,1992
321 GAC-AAC Asp-Asn Day
I.N.M.,1997
322 GGC-AGC Gly-Ser Hobbs
H.H.,1992
329 CGA-CCA Arg-Pro Day
I.N.M.,1997
331 TGC-TAC Cys-Tyr Hobbs
H.H.,1992
333 GAT-GGT Asp-Gly Hobbs
H.H.,1992
333 GAT-GTT Asp-Val Hobbs
H.H.,1992
336 GAG-AAG Glu-Lys Hobbs
H.H.,1992
343 TGC-CGC Cys-Arg Hobbs
H.H.,1992
345 CAG-CGG Gln-Arg Gundersen
K.E.,1996
347 TGC-TAC Cys-Tyr Loux
N.,1992
347 TGC-CGC Cys-Arg Couture.,1997
354 TAC-TGC Tyr-Cys Assouline
L.,1997
358 TGT-CGT Cys-Arg Hobbs
H.H.,1992
364 CTG-CGG Leu-Arg Kotze
M.J.,1998
365 GAC-GAG Asp-Glu Kotze
M.J.,1997b
375 GGC-AGC Gly-Ser Koivisto
U.M.,1995
378 GCC-GAC Ala-Asp Day
I.N.M.,1997
380 CTC-CAC Leu-His Koivisto
U.M.,1995
383 ACC-CCC Thr-Pro Jensen
H.K.,1996a
384 AAC-AAG Asn-Lys Kotze
M.J.,1997a
385 CGG-TGG Arg-Trp Reshef
A.,1996
387 GAG-AAG Glu-Lys Hobbs
H.H.,1992
393 CTG-CGG Leu-Arg Mak.,1997
395 CGG-CAG Arg-Gln Thiart
R.,1997
395 CGG-TGG Arg-Trp Day
I.N.M.,1997
402 ATC-ACC Ile-Thr Ekstrom
U.,1995
408 GTG-ATG Val-Met Leitersdorf E.,1989
Schuster
H.,1993a
Schuster
H.,1995b
408 GTG-TTG Val-Leu Nissen
H.,1998
410 GCT-ACT Ala-Thr Hobbs
H.H.,1990
412 GAC-CAC Asp-His Miyake
Y.,1992
413 ACG-AAG Thr-Lys Hobbs
H.H.,1992
415 GTG-GCG Val-Ala Lombardi
P.,1997b
420 ATC-AAC Ile-Asn Hobbs
H.H.,1992
420 ATC-ATG Ile-Met Hobbs
H.H.,1992
422 TGG-TGC Trp-Cys Hobbs
H.H.,1992
424 GAC-GAA Asp-Glu Koivisto
U.M.,1995
457 GGG-AGG Gly-Arg Hobbs
H.H.,1992
461 GAC-AAC Asp-Asn Ward
A.J.,1995
461 GAC-CAC Asp-His Day
I.N.M.,1997
462 TGG-CGG Trp-Arg Ward
A.J.,1995
464 CAC-CGC His-Arg Hobbs
H.H.,1992
502 GTG-ATG Val-Met Hobbs
H.H.,1992
505 CCT-TCT Pro-Ser Hobbs
H.H.,1992
525 GGC-GAC Gly-Asp Hobbs
H.H.,1990
528 GGT-GAT Gly-Asp Hobbs
H.H.,1990
528 GGT-GTT Gly-Val Loux
N.,1992
543 AAT-AGT Asn-Ser Gorski
B.,1998
543 AAT-CAT Asn-His Tricot-Guerber F.,1995
544 GGC-GTC Gly-Val Esser
V.,1988
556 TGG-TCG Trp-Ser Jensen
H.K.,1996a
558 GAC-AAC Asp-Asn Hobbs
H.H.,1992
571 GGG-GAG Gly-Glu Hobbs
H.H.,1992
578 TTG-TCG Leu-Ser Hobbs
H.H.,1992
612 CGC-TGC Arg-Cys Day
I.N.M.,1997
628 CCA-CTA Pro-Leu Day
I.N.M.,1997
634 TTC-TTG Phe-Leu Cenarro A.,1996b
646 TGT-TAT Cys-Tyr Leitersdorf E.,1990
646 TGT-TGG Cys-Trp Nissen
H.,1998
656 TGC-CGC Cys-Arg Hobbs
H.H.,1992
660 TGC-TAC Cys-Tyr Schuster
H.,1995a
661 CTC-CCC Leu-Pro Hobbs
H.H.,1992
664 CCG-CTG Pro-Leu Soutar A.K.,1989 ;
Soutar A.K.,1991 ;
Rubinsztein D.C.,1992 ;
Defesche J.C.,1992 ;
Defesche J.C.,1993
678 CCG-CTG Pro-Leu Schuster
H.,1995a
705 ACC-ATC Thr-Ile Loux
N.,1992
765 AGC-TGC Ser-Cys Kotze
M.J.,1997a
771 ATT-TTT Ile-Phe Hobbs
H.H.,1992
776 GTG-ATG Val-Met Pereira E.,1995a
806 GTC-ATC Val-Ile Hobbs
H.H.,1992
807 TAT-TGT Tyr-Cys Davis C.G.,1986
823 GGC-GAC Gly-Asp Koivisto
U.M.,1995
3) nonsense мутации
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Экзон:Кодон:Замена нук-:Замена амино-: Литература :
: : леотидов : кислот : :
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10 GAG-TAG Glu-Ter Cenarro
A.,1996a
12 CAG-TAG Gln-Ter Loux
N.,1992
23 TGG-TAG Trp-Ter Hobbs
H.H.,1992
64 CAG-TAG Gln-Ter Schuster
H.,1995a
66 TGG-TAG Trp-Ter Day
I.N.M.,1997
78 TCA-TAA Ser-Ter Leren
T.P.,1994
80 GAG-TAG Glu-Ter Koivisto
U.M.,1995
81 CAA-TAA Gln-Ter Hobbs
H.H.,1992
92 GAG-TAG Glu-Ter Hobbs
H.H.,1992
119 GAG-TAG Glu-Ter Hobbs
H.H.,1992
122 TGC-TGA Cys-Ter Descamps
O.,1997
167 TAC-TAG Tyr-Ter Landsberger D.,1992
207 GAG-TAG Glu-Ter Hobbs
H.H.,1992
210 TGC-TGA Cys-Ter Gudnason
V.,1993
221 CAG-TAG Gln-Ter Hobbs
H.H.,1992
284 TGG-TGA Trp-Ter Koivisto
U.M.,1995
292 TGC-TGA Cys-Ter Hobbs
H.H.,1992
315 TAC-TAA Tyr-Ter Hobbs
H.H.,1992
324 CAG-TAG Gln-Ter Day
I.N.M.,1997
329 CGA-TGA Arg-Ter Solberg
K.,1994
331 TGC-TGA Cys-Ter Gorski
B.,1998
338 CAG-TAG Gln-Ter Hobbs
H.H.,1992
363 CAG-TAG Gln-Ter Kotze
M.J.,1997b
369 AAG-TAG Lys-Ter Ward
A.J.,1995
371 TGC-TGA Cys-Ter Langenhoven E.,1996
468 TAC-TAG Tyr-Ter Simard
J.,1994
469 TGG-TAG Trp-Ter Hobbs
H.H.,1992
556 TGG-TGA Trp-Ter Hobbs
H.H.,1992
646 TGT-TGA Cys-Ter Ekstrom
U.,1995
657 CAG-TAG Gln-Ter Hobbs
H.H.,1992
660 TGC-TGA Cys-Ter Lehrman
M.A.,1987a
665 CAG-TAG Gln-Ter Gorski
B.,1998
790 AAG-TAG Lys-Ter Maruyama
T.,1995
792 TGG-TGA Trp-Ter Lehrman
M.A.,1985a
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