Таблица F9m
Таблица F9m
Мутации гена фактора lX (F IX)
крупные делеции
------------------------------------------------------------------------
Размер делеции : Локализация : Литература
в килобазах : :
------------------------------------------------------------------------
> 163 весь ген Ketterling R.P.,1994
> 80 все экзоны Ketterling R.P.,1994
> 41 все экзоны Ketterling R.P.,1994
> 38 экзоны b-h Ketterling
R.P.,1993
26.8 Ketterling
R.P.,1993
10,9 Ketterling
R.P.,1993
8,8 экзоны g-h Ketterling
R.P.,1993
> 3 экзон 1 Ketterling
R.P.,1993
1,1 экзон е Ketterling
R.P.,1993
18 Giannelli
F.,1983
9 Giannelli
F.,1983
> 33 Haasan
H.J.,1985
> 4,4 Solera
J.,1992
> 80 Taylor
S.A.M.,1988
> 10 5+6 экзоны (a.a.85-195) Chen
S.H.,1985
23 Green
P.M.,1988
2,8 4 экзон (a.a.47-84) Vidaud
M.,1986
> 9 Ludwig
M.,1992a
> 44 экзоны 1-8 Thompson
A.R.,1994
> 40 экзоны 2-8 Thompson
A.R.,1994
экзоны 2-8 Thompson
A.R.,1994
1,5 экзон 7 Ludwig
M.,1989
35 целый ген Koeberl
D.D.,1990
8 экзоны 4-5 Ludwig
M.,1989
9 экзоны 1-3 Ludwig
M.,1989
> 11 экзон 1 Ludwig
M.,1989
> 35 экзоны 1-8 Ludwig
M.,1989
экзоны d-f Caglayan
S.H.,1997
-------------------------------------------------------------------------
мелкие делеции
-------------------------------------------------------------------------
Локализация: Размер делеции : Последствия : Литература
: в нуклеотидах : делеции :
-------------------------------------------------------------------------
58 1 fs Lin S.W.
89 1 fs Lillicrap D.
13 1(-A) Reitsma P.H.,1989
111-120 10 fs Saad S.,1994
112 1(-G) fs Ghanem N.,1993
6379 1(-A) fs Ghanem N.,1993
6392 1 fs Green P.M.,1989
6398-9 2 fs Green P.M.,1991 ;
Ketterling R.P.,1994
6401-10 10 fs Solera J.
6402-6 5 (-TGTTC) fs Ludwig M.,1992a
6411 1(-G) fs;(ter 51) Caglayan S.H.,1994
6416-17 2(-TT) fs Ludwig M.
6420-25 6 -arg,glu Wulff K.
6441 1 fs Saad S.,1994
6466 1 fs Green P.M.,1991b
6484-6 3 -arg Green P.M.,1989
6491-4 4 fs Chen S.H.,1991b
6491-5 4 fs Poort S.R.,1990
6666-75 10 fs Green P.M.,1991b
6680-1 2(-TG) fs Matsushita T.,1990
6684 1 fs Tartary M.
9900-19218 (- M;:;7;>;=; d+e) Ludwig M.,1992
10434-5 2(-GT) fs Knobloch O.
10506-9 8;;;8;
10510-13 4 fs Thompson A.R.
10507-10 4 fs Saad S.,1994
17660-3 4 fs Koeberl D.D.,1989
17669 1 (-A) fs Schach B.G.,1987
17669-75 7 fs Ketterling R.P.,1993
17706 1 fs Lin S.W.,1993a
17754,5 8;;;8; 6 1 fs Poon M.C.,1993
20380-1 2 fs Saad S.,1994
20387-8 2 fs Ketterling R.P.,1994
20398 1 fs Green P.M.,1991b
20466-78 13 fs Koeberl D.D.,1989 ;
Ketterling R.P.,1993
20501 1 fs Bottema C.D.K.,1990c
Green P.M.,1991b ;
Ketterling R.P.,1993
20510 1 fs Green P.M.,1991b
20527-9 3 -gly Saad S.,1994
20530-2 3(-GGA) -gly Saad S.,1994
20531-3 3 -gly Thompson A.R.,1994
30050 1(-T) fs Knobloch O.
30058 4 fs Ghanem N.,1993
30839-41 3(-GAG) -glu Wulff K.
30857 1(-C) fs Saad S.,1994
30845 1 fs Tartary M.,1993
30890 1 fs Nielsen L.R.,1992
30942 1(-A) fs Saad S.,1994
30950-7 8 fs Green P.M.,1989
31007 1(-A) fs Wulff K.
31059-60 2 fs Green P.M.,1989
31084-90 7 (-AGTTCTT) fs Ludwig M.,1992a
31110-12 3 -val Ketterling R.P.,1993
31149-51 3(-CCA) in frame Ludwig M.
31158-62 5(-ACAAC) fs Ludwig M.
31157-9 8;;;8;
31160-2, 3 -asn Chen S.H.,1991b
31166(7) 1(-T) fs Ludwig M.,1992a
31194-95 2 Knobloch O.,1993
31261, 1(-T) fs Chan V.,1991
31286-87 2 fs Knobloch O.,1993
31307-20 14 fs Saad S.,1994
31321-28 8 fs Knobloch O.,1993
31344(5) 1 fs Winship P.R.,1991
31350 1(-A) fs Thompson A.R.,1994
-----------------------------------------------------------------------------
инсерции
---------------------------------------------------------------------------
Локализация: Количество : Кодон : Литература
: нуклеотидов : :
---------------------------------------------------------------------------
T -2 Tartary
M.,1993
114 AT -18 Giannelli F.,1996
6472 GG 33 Saad
S.,1994
17718 A 101 Giannelli F.,1996
17727 TT 105 Saad
S.,1994
17764 C 117 Ludwig
M.,1992a
17696 A 94 Giannelli F.,1996
17713-8 A 108 Saad
S.,1994
17716 26 111 Tartary
M.,1993
30800 A Green
P.M.,1992
30152 A 233 Ghanem
N.,1993
30930 T 290 Giannelli F.,1996
31004 !;;; 295 Saad
S.,1994
31141 AA 340 Saad
S.,1994
31158 G 346 Giannelli F.,1996
31157 AA 346 Thompson
A.R.,1992
31210-13 AGAT 364 Thompson
A.R.,1994
31270 T 383 Giannelli F.,1996
31309 9 David
D.,1993
31318 ATATATACC 399 David
D.,1993
31345 GATT (4) Ketterling R.P.,1993
31346 GATT 408 Bottema
C.D.K.,1989b
;;=;B;@;>;=; d 6 kb Chen S.H.,1988
-----------------------------------------------------------------------------
инсерции + делеции
-----------------------------------------------------------------------------
Кодон : Размер делеции : Размер инсерции : Литература
:
: : :
:
-----------------------------------------------------------------------------
-----------------------------------------------------------------------------
48 3 bp (GAT) 1 bp (A) Saad S.,1994
272 2 bp (GG) 1 bp (C) Giannelli F.,1996
345 5 bp (ACAAC) 1 bp (G) Giannelli F.,1996
363 2 bp (TA) 2 bp (CG) Ludwig M.,1993
401 2 bp (CC) 10 bp (AAGGTACCAA) Rao K.J.,1990
408 1 bp 4 bp (GATT) Winship P.R.,1991
;;=;B;@;>;=; 1/
M;:;7;>;=; 2 bp (GT) 1 bp (A) Ludwig M.,1988
10,9 kb 95 kb Ketterling P.R.,1993
28,6 kb 2,3 kb Ketterling P.R.,1994
4442 bp 47 bp Solera J.,1992
-----------------------------------------------------------------------------
Сплайсинговые мутации
------------------------------------------------------------------------------
Интрон: Донор/ :Локали-: Замена : Литература
:
:акцептор.: зация : нуклеот.:
:
------------------------------------------------------------------------------
1 ds + 1 G - C Young.,1996
1 ds + 1 G - T Saad
S.,1994
1 ds + 5 G - A Green
P.M.,1991b
1 ds + 5 G - C Giannelli
F.,1996
1 ds + 5 G - T Giannelli
F.,1996
1 as - 1 G - A Saad
S.,1994
1 as - 1 G - T Ghanem
N.,1993
1 as - 1 G - C Giannelli
F.,1996
1 ds - 1 G - C Giannelli
F.,1996
1 ds - 2 A - G Saad
S.,1994
1 as - 6 T - G Bottema
C.D.K.,1991b
1 as + 65 A - G Koeberl D.D.,1990a
2 ds + 1 G - A Giannelli
F.,1996
2 ds + 3 G - C Nielsen
L.R.,1994
2 ds + 5 G - A Ghanem
N.,1993
2 ds + 6 T - C Bottema
C.D.K.,1991b
Saad
S.,1994
2 as - 1 G - A Saad
S.,1994
2 as - 1 G - C Ketterling
R.P.,1993
Wulff K.,1995
2 as - 25 A - G David D.,1997
2 ds + 86 C - G Bottema
C.D.K.,1991b
3 ds + 2 T - C Ghanem
N.,1993
3 ds + 2 T - G Winship P.R.,1986
3 A - C Picketts D.J.,1990
3 ds + 2 T - G Giannelli
F.,1991
3 ds + 5 G - A Giannelli
F.,1996
3 ds + 5 G - C Giannelli F.,1993
3 as - 1 G - A Koeberl D.D.,1990a
3 ds - 1 G - A Saad
S.,1994
3 as - 2 A - T Giannelli
F.,1996
3 as - 3 A - G Ketterling
R.P.,1993
4 ds + 2 T - A Saad
S.,1994
4 ds + 2 T - C Saad
S.,1994
4 ds + 5 G - A Giannelli
F.,1996
4 ds + 7 A - G Koeberl D.D.,1990a;
Bottema
C.D.K.,1991b
4 as - 1 G - C Green
P.M.,1991b
4 as - 1 G - T Ludwig
M.,1992a ;
Thompson
A.R.,1992
Young.,1996
4 as - 2 A - C Bowen
D.J.,1993
4 as - 2 A - G Koeberl D.D.,1990a ;
Poon
M.C.,1993
Haris
I.I.,1994 ;
Saad
S.,1994
4 as - 4 T - C Giannelli
F.,1996
5 ds + 1 G - A Green
P.M.,1991b
5 ds + 1 G - T Chen
S.H.,1993
5 ds + 2 T - A Gostout
B.,1993
5 ds + 2 T - C Ghanem
N.,1993
5 ds + 2 T - G Saad
S.,1994
5 ds + 13 A - G Koeberl D.D.,1990a
5 as - 2 A - C Giannelli
F.,1996
5 as - 2 A - T Giannelli
F.,1996
6 ds + 1 G - T Rees
D.J.G.,1985
6 ds + 1 G - A Giannelli
F.,1991
6 ds + 2 T - C Giannelli
F.,1996
6 as - 1 G - C Bottema
C.D.K.,1991a ;
Poon
M.C.,1993
6 as - 1 G - A Saad
S.,1994
6 as - 1 G - A Wulff K.,1995
6 as - 53 G - A Bottema
C.D.K.,1991a
7 as - 1 G - A Matsushita
T.,1990
Chen
S.H.,1991b
Bottema
C.D.K.,1991a
7 ds + 1 G - A Tartary
M.,1993
7 as - 1 G - T Ludwig
M.,1992a ;
Thompson A.R.,1992b ;
Chen S.H.,1991
12 ds + 5 G - A Rootwelt H.,1994
-------------------------------------------------------------------------------
промоторная область
---------------------------------------------------------------------------
Локализа-:Замена нук-: Литература
ция : леотидов :
---------------------------------------------------------------------------
-793 G - A Matsushita T.,1990
- 26 G - C Crossley
M.,1992
- 26 G - A Gianelli
F.,1996
- 23 C - T Ketterling R.P.,1995
- 21 T - G Reijnen
M.J.,1993
- 20 T - A Reitsma
P.H.,1988
- 20 T - C Ghanem
N.,1993
- 19 G - C Ketterling R.P.,1995
- 6 G - A Crossley
M.,1990a
Hirosawa
S.,1990
Nishimura T.,1990
Bottema C.D.K.,1993
Ghanem
N.,1993
Poon
M.C.,1993
Tartary
M.,1993
Stowell
K.M.,1993
Saad
S.,1994
- 6 G - C Gispert
S.,1989
- 5 A - T Picketts
D.J.,1992
- 5 A - G Saad
S.,1994
6 T - A Freedenberg D.L.,1991
8 T - C Royle
G.,1991
13 A - G Reitsma
P.H.,1989
Koeberl
D.D.,1989
Crossley
M.,1989
Ghanem
N.,1993
13 A - C Gianelli
F.,1996
3'UTR A - G Vielhaber E.,1993
-------------------------------------------------------------------------
missense мутации
-------------------------------------------------------------------------
Экзон:Кодон:Замена нук-:Замена амино- : Литература
: : леотидов : кислот :
-------------------------------------------------------------------------
-------------------------------------------------------------------------
1 - 44 CGC-CAC arg-his Ludwig
M.,1992b
1 - 40 ATC-TTC ile-phe Poon
M.C.,1993
1 - 30 ATC-AAC ile-asn Green
P.M.,1993
1 - 26 GGA-GTA gly-val Giannelli F.,1996
1 - 19 TGT-CGT cys-arg Bottema
C.D.K.,1991a
1 - 19 TGT-TAT cys-tyr Giannelli F.,1996
1 - 19 TGT-TGG cys-trp Nielsen
L.R.,1994
1 - 17 GTT-ATT val-ile Bottema
C.D.K.,1991a
1 - 17 GTT-CTT val-leu Saad
S.,1994
1 - 10 GCC-ACC ala-thr Giannelli F.,1996
1 - 10 GCC-GTC ala-val Giannelli F.,1996
2 - 4 CGG-TGG arg-trp Green
P.M.,1989
Green P.M.,1990
Green
P.M.,1991
Bottema
C.D.K.,1991a
Ghanem
N.,1993
Gostout
B.,1993
Knobloch
O.,1993
Saad
S.,1994
2 - 4 CGG-CTG arg-leu Koeberl D.D.,1990a
Ghanem
N.,1993
Knobloch
O.,1993
2 - 4 CGG-CAG arg-gln Bentley
A.K.,1986
Ware
J.,1989
Green
P.M.,1989
Sugimoto
M.,1989
Liddell
M.B.,1989a
Koeberl D.D.,1990a
Bottema
C.D.K.,1990a
Bottema
C.D.K.,1991b
Bottema C.D.K.,1993
Lin
S.W.,1991
Lin
S.W.,1993
Thompson
A.R.,1992
Poon
M.C.,1993
Ghanem
N.,1993
Knobloch
O.,1993
Saad
S.,1994
Tartary
M.,1993
Chan
V.,1991
2 - 2 AAG-AAT lys-asn Thompson
A.R.,1992
2 - 1 AGG-AGC/T arg-ser Diuguid
D.L.,1986
2 - 1 AGG-ACG arg-thr Heit
J.A.,1998
2 2 AAT-GAT asn-asp Koeberl
D.D.,1990
2 2 AAT-TAT asn-tyr Koeberl
D.D.,1990b Giannelli F.,1996
2 2 AAT-ATT asn-ile Poon
M.C.,1992
2 4 GGT-AGT gly-ser Saad
S.,1994
2 4 GGT-GAT gly-asp Giannelli F.,1996
2 5 AAA-GAA lys-glu Giannelli F.,1996
2 7 GAA-GCA glu-ala Winship
P.R.,1991
2 7 GAA-GTA glu-val Rowley
G.,1995
2 7 GAA-GAT glu-asp Winship P.R.,1989
2 8 GAA-GGA glu-gly Bottema
C.D.K.,1991b
2 8 GAG-GCG glu-ala Saad
S.,1994
2 9 TTT-ATT phe-ile Saad
S.,1994
2 9 TTT-TGT phe-cys Giannelli F.,1996
2 12 GGG-GCG gly-ala Chan
V.,1991
2 12 GGG-AGG gly-arg Gostout
B.,1993
2 12 GGG-GAG gly-glu Saad
S.,1994
2 17 GAA-AAA glu-lys Ghanem
N.,1993
Tartary
M.,1993
2 17 GAA-CAA glu-gln Giannelli F.,1996
2 17 GAA-GCA glu-ala Giannelli F.,1996
2 18 TGT-CGT cys-arg Ludwig
M.,1992a
Tartary
M.,1993
2 18 TGT-TAT cys-tyr Bottema
C.D.K.,1991a
Tartary
M.,1993
2 20 GAA-GTA glu-val Giannelli F.,1996
2 21 GAA-AAA glu-lys Hamaguchi N.,1991
2 23 TGT-CGT cys-arg Lin
S.W.,1991
2 23 TGT-AGT cys-tyr Lin
S.W.,1991
Winship
P.R.,1991
2 23 TGT-TAT cys-tyr Saad
S.,1994
2 25 TTT-TCT phe-ser Ludwig
M.,1992a
2 26 GAA-CAA glu-gln Tartary
M.,1993
2 27 GAA-AAA glu-lys Chen
S.H.,1989b
2 27 GAA-GTA glu-val Wang
N.S.,1990b
2 27 GAA-GAC glu-asp Giannelli F.,1996
2 29 CGA-CAA arg-gln Koeberl
D.D.,1989
Koeberl D.D.,1990a
Chen
S.H.,1993
Thompson
A.R.,1992
Bottema C.D.K.,1993
Ghanem
N.,1993
Saad
S.,1994
2 29 CGA-CCA arg-pro Thorland
E.C.,1995
2 30 GAA-AAA glu-lys Ketterling R.P.,1993
2 32 TTT-TCT phe-ser Giannelli F.,1996
2 33 GAA-GAC glu-asp Koeberl
D.D.,1989
2 33 GAA-GAC glu-asp Koeberl
D.D.,1989
2 38 ACA-AGA thr-arg Giannelli F.,1996
2 38 ACA-ATA thr-ile Saad
S.,1994
3 43 AAG-GAG lys-glu Giannelli F.,1996
3 45 TAT-AAT tyr-asn Saad
S.,1994
3 45 TAT-GAT tyr-asp Gostout
B.,1993
3 45 TAT-TGT tyr-cys Giannelli F.,1996
3 46 gly-asp Davis
L.M.,1984
3 47 GAT-AAT asp-asn Saad
S.,1994
4 47 GAT-GGT asp-gly Davis
L.M.,1987
4 47 GAT-GAA asp-glu Bottema
C.D.K.,1990c
Winship
P.R.,1991
4 48 GGA-CGA gly-arg Lin
S.W.,1991
4 48 GGA-GTA gly-val Green
P.M.,1991b Green P.M.,1991
4 49 GAT-TAT asp-tyr Giannelli F.,1996
4 49 GAT-GGT asp-gly Thorland
E.C.,1995
4 50 CAG-CCG gln-pro Lozier
J.N.,1990
4 50 CAG-CAC gln-his Saad
S.,1994
4 51 TGT-TGG cys-trp Ghanem
N.,1993
Saad
S.,1994
4 51 TGT-CGT cys-arg Giannelli F.,1996
4 55 CCA-GCA pro-ala Spitzer
S.G.,1990b
Spitzer
S.G.,1989
Green
P.M.,1989
Chen
S.H.,1991 Chen S.H.,1991a
4 55 CCA-TCA pro-ser Green
P.M.,1991b Green P.M.,1991
4 55 CCA-CTA pro-leu Green
P.M.,1991b Green P.M.,1991
4 55 CCA-CAA pro-gln Ketterling R.P.,1993
4 56 TGT-CGT cys-arg Alkan
M.,1991
4 56 TGT-TCT cys-ser Ludwig
M.,1991
4 56 TGT-AGT cys-ser Tartary
M.,1993
4 56 TGT-TAT cys-tyr Koeberl D.D.,1990a
4 58 AAT-AAG asn-lys Giannelli F.,1996
4 59 GGC-AGC gly-ser Saad
S.,1994
4 59 GGC-GTC gly-val Bottema
C.D.K.,1991b
Ketterling R.P.,1993
4 60 GGC-AGC gly-ser Denton
P.H.,1988
Koeberl
D.D.,1989
Koeberl D.D.,1990a
Poort
S.R.,1989a
Winship
P.R.,1991
Thompson A.R.,1992a
Thompson A.R.,1992c
Green P.M.,1990
Chen
S.H.,1989b
Chen
S.H.,1991a
Ketterling R.P.,1991b
Chen
S.H.,1992
Bottema C.D.K.,1993
Poon
M.C.,1993
Tartary
M.,1993
Saad
S.,1994
4 60 GGC-CGC gly-arg Bottema
C.D.K.,1991b
4 60 GGC-GAC gly-asp Koeberl D.D.,1990a
4 60 GGC-TGC gly-cys Giannelli F.,1996
4 62 TGC-TAC cys-tyr Haris
I.I.,1994
4 64 GAT-AAT asp-asn Winship
P.R.,1991
4 64 GAT-GGT asp-gly Green
P.M.,1989
4 64 GAT-GAG asp-glu Tartary
M.,1993
4 66 ATT-ACT ile-thr Ghanem
N.,1993
Tartary
M.,1993
4 67 AAT-AAA asn-lys Caglayan
S.H.,1997
4 69 TAT-TGT tyr-cys Ghanem
N.,1993
Knobloch
O.,1993
Saad
S.,1994
4 71 TGT-TCT cys-ser Saad
S.,1994
4 71 TGT-AGT cys-ser Giannelli F.,1996
4 71 TGT-TGG cys-trp Giannelli F.,1996
4 72 TGG-AGG trp-arg Saad
S.,1994
4 73 TGT-CGT cys-arg Giannelli F.,1996
4 73 TGT-TAT cys-tyr Giannelli F.,1996
4 73 TGT-TTT cys-phe Giannelli F.,1996
4 76 GGA-AGA gly-arg Giannelli F.,1996
4 76 GGA-GTA gly-val Saad
S.,1994
4 77 TTT-TGT phe-tyr Giannelli F.,1996
4 77 TTT-TGT phe-cys Saad
S.,1994
4 77 TTT-TCT phe-ser Giannelli F.,1996
4 78 GAA-AAA glu-lys Giannelli F.,1996
4 79 GGA-AGA gly-arg Giannelli F.,1996
4 82 TGT-TAT cys-tyr Giannelli F.,1996
5 88 TGT-TCT cys-ser Giannelli F.,1996
5 88 TGT-CGT cys-arg Saad
S.,1994
5 88 TGT-TAT cys-tyr Tartary
M.,1993
5 90 ATT-ACT ile-thr Saad
S.,1994
5 92 AAT-CAT asn-his Nishimura H.,1991
5 92 AAT-AAA asn-lys Ghanem
N.,1993
Tartary
M.,1993
5 93 GGC-AGC gly-ser Ketterling R.P.,1993
5 93 GGC-GAC gly-asp Nielsen
L.R.,1992
5 94 AGA-AGT arg-ser Bottema
C.D.K.,1991b
5 95 TGC-TAC cys-tyr Bottema
C.D.K.,1991b
5 95 TGC-TTC cys-phe Giannelli F.,1996
5 95 TGC-TGG cys-trp Nielsen
L.R.,1992
5 97 CAG-GAG gln-glu Tartary
M.,1993
5 97 CAG-CCG gln-pro Giannelli F.,1996
5 99 TGT-CGT cys-arg Koeberl D.D.,1990a
5 99 TGT-TAT cys-tyr Giannelli F.,1996
5 107 GTT-GTA val-val Green
P.M.,1991b Green P.M.,1991
5 107 GTT-GCT val-ala Chen
S.H.,1991 Chen S.H.,1991a
5 108 GTT-GCT val-ala Giannelli F.,1996
5 109 TGC-TCC cys-ser Giannelli F.,1996
5 109 TGC-TTC cys-phe Giannelli F.,1996
5 110 TCC-CCC ser-pro Bottema
C.D.K.,1991a
5 111 TGT-CGT cys-arg Lin
S.W.,1993
5 111 TGT-TCT cys-ser Bowen
D.J.,1993
5 114 GGA-GCA gly-ala Ritchie
D.B.C.,1989
Winship
P.R.,1991
5 114 GGA-GAA gly-glu Giannelli F.,1996
5 115 TAT-TGT tyr-cys Saad
S.,1994
5 116 CGA-AGA arg-arg Saad
S.,1994
5 120 AAC-TAC asn-tyr Green
P.M.,1989
5 121 CAG-CAT gln-his Giannelli F.,1996
5 123 TCC-CCC ser-pro Saad
S.,1994
5 124 TGT-CGT cys-arg Giannelli F.,1996
5 124 TGT-TAT cys-tyr Bottema
C.D.K.,1991a
5 124 TGT-TTT cys-phe Giannelli F.,1996
5 127 GCA-GTA ala-val Lin
S.W.,1993
5 127 GCA-GCT ala-ala Giannelli F.,1996
5 127 GCA-GCC ala-ala Giannelli F.,1996
5 127 GCA-GCG ala-ala Giannelli F.,1996
5 128 GTG-ATG val-met Bottema
C.D.K.,1991a
5 131 CCA-CTA pro-leu Giannelli F.,1996
6 132 TGT-CGT cys-arg Vidaud
M.,1990
Lin
S.W.,1993
6 132 TGT-TTT cys-phe Green
P.M.,1991
6 132 TGT-GGT cys-gly Saad
S.,1994
6 132 TGT-TCT cys-ser Saad
S.,1994
6 132 TGT-TGG cys-trp Giannelli F.,1996
6 132 TGT-TAT cys-tyr Bottema
C.D.K.,1991a
Lin
S.W.,1993
Tartary
M.,1993
6 133 GGA-AGA gly-arg High
K.A.,1993
6 133 GGA-GAA gly-glu Tartary
M.,1993
6 145 CGT-TGT arg-cys Toomey
J.R.,1988
Liddell
M.B.,1989b
Winship
P.R.,1991
Green P.M.,1990
Thompson A.R.,1992b
Poon
M.C.,1993
Knobloch
O.,1993
Saad
S.,1994
Thompson
A.R.,1994
6 145 CGT-CAT arg-his Noyes
C.M.,1983
Diuguid
D.L.,1989
Green
P.M.,1991b
Suehiro
K.,1990
Hamaguchi M.,1991
Bottema
C.D.K.,1989a
Bottema
C.D.K.,1991a
Bottema
C.D.K.,1991b
Bottema
C.D.K.,1991c
Bottema C.D.K.,1993
Koeberl
D.D.,1989
David
D.,1993
Lin
S.W.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
6 145 CGT-CTT arg-leu Picketts
D.J.,1990
7 198 TTG-TGG leu-trp Saad
S.,1994
7 198 TTG-TCG leu-ser Ketterling R.P.,1993
7 206 TGT-TCT cys-ser Taylor
S.A.M.,1990
Saad
S.,1994
7 206 TGT-TAT cys-tyr Bottema
C.D.K.,1991b
Taylor
S.A.M.,1990
7 206 TGT-CGT cys-arg Knobloch O.,1993
Saad
S.,1994
7 207 GGA-AGA gly-arg David
D.,1993
Saad
S.,1994
7 207 GGA-GAA gly-asp Giannelli F.,1996
7 207 GGA-GAA gly-glu Lin
S.W.,1993
7 208 GGC-GAC gly-asp Saad
S.,1994
7 211 GTT-TTT val-phe Chen
S.H.,1991
7 212 AAT-AAG asn-lys Giannelli F.,1996
7 215 TGG-CGG trp-arg Bottema
C.D.K.,1990c
7 215 TGG-GGG trp-gly Giannelli F.,1996
7 215 TGG-TGC trp-cys Lin
S.W.,1993
7 216 ATT-ACT ile-thr Green P.M.,1991b
Koeberl D.D.,1990a
Chen
S.H.,1991
7 216 ATT-ATG ile-met Bottema
C.D.K.,1991a
7 218 ACT-ATT thr-ile Giannelli F.,1996
7 219 GCT-ACT ala-thr Giannelli F.,1996
7 220 GCC-GTC ala-val Koeberl D.D.,1990a
Poon
M.C.,1993
7 222 TGT-AGT cys-ser Saad
S.,1994
7 222 TGT-TGG cys-trp Koeberl
D.D.,1989
Bottema
C.D.K.,1989a
7 - T - C - Koeberl D.D.,1990a
Chen
S.H.,1991
7 227 GTT-GTC val-val Koeberl
D.D.,1989
Chen
S.H.,1991
7 233 GCA-ACA ala-thr Green P.M.,1991b
Tam
B.M.,1991
Koeberl
D.D.,1989
Chen
S.H.,1991
Tartary
M.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 234 GGT-GCT gly-ala Giannelli F.,1996
8 237 AAT-GAT asn-asp Giannelli F.,1996
8 238 ATT-AAT ile-asn Giannelli F.,1996
8 245 GAG-AAG glu-lys Giannelli F.,1996
8 245 GAG-GTG glu-val Ludwig
M.,1992b
Koeberl D.D.,1990a
8 248 CGA-GGA arg-gly Giannelli F.,1996
8 248 CGA-CAA arg-gln Chen
S.H.,1989b
Chen
S.H.,1991
Koeberl D.D.,1990a
Ludwig
M.,1992b
Bottema
C.D.K.,1991a
Koeberl D.D.,1990a
Chen
S.H.,1991a
Thompson A.R.,1992a
David
D.,1993
Bottema C.D.K.,1993
Ghanem
N.,1993
Poon
M.C.,1993
Saad
S.,1994
8 251 ATT-AAT ile-asn Saad
S.,1994
8 252 CGA-CTA arg-leu Saad
S.,1994
8 256 CAC-CGC his-arg Giannelli F.,1996
8 257 CAC-TAC his-tyr Montandon A.J.,1990a
8 259 TAC-TGC tyr-cys Bottema
C.D.K.,1991b
Ketterling R.P.,1993
8 260 AAT-AGT asn-ser Koeberl
D.D.,1989
8 260 AAT-ACT asn-thr Bottema
C.D.K.,1989a
8 268 CAT-CGT his-arg Saad
S.,1994
8 268 CAT-CAG his-gln Tartary
M.,1993
8 269 GAC-AAC asp-asn Knobloch O.,1993
8 269 GAC-GTC asp-val Giannelli F.,1996
8 269 GAC-GGC asp-gly Ghanem
N.,1993
Saad
S.,1994
8 269 GAC-GAA asp-glu Ketterling R.P.,1993
8 270 ATT-TTT ile-phe Gostout
B.,1993
Saad
S.,1994
8 270 ATT-ACT ile-thr Bottema
C.D.K.,1991a
8 271 GCC-GTC ala-val Koeberl D.D.,1990a
Saad
S.,1994
8 272 CTT-CGT leu-arg Bottema
C.D.K.,1991b
8 272 CTT-CAT leu-his Giannelli F.,1996
8 272 CTT-TTT leu-phe Driscoll M.C.,1996
8 273 CTG-CCG leu-pro Giannelli F.,1996
8 275 CTG-CCG leu-pro Bottema
C.D.K.,1991a
Saad
S.,1994
8 275 CTG-CAG leu-gln Giannelli F.,1996
8 279 TTA-ATA leu-ile Giannelli F.,1996
8 279 TTA-TCA leu-ser Ghanem
N.,1993
8 284 TAC-TGC tyr-cys Giannelli F.,1996
8 287 CCT-CTT pro-leu Chen
S.H.,1991
8 287 CCT-CAT pro-his Giannelli F.,1996
8 288 ATT-ATG ile-met Bottema
C.D.K.,1991a
8 289 TGC-TTC cys-phe Gostout
B.,1993
Saad
S.,1994
8 291 GCT-CCT ala-pro Winship
P.R.,1991
8 291 GCT-ACT ala-thr Montandon A.J.,1989
Green
P.M.,1992a
Saad
S.,1994
8 295 TAC-TGC tyr-cys Ghanem
N.,1993
8 296 ACG-GCA thr-ala Giannelli F.,1996
8 296 ACG-AAG thr-lys Giannelli F.,1996
8 296 ACG-ATG thr-met Green P.M.,1991b
Green P.M.,1990
Bottema
C.D.K.,1989a
Ketterling R.P.,1991a
Ketterling R.P.,1991b
Chen
S.H.,1991
Winship
P.R.,1991
Tarnover A.,1991
Koeberl
D.D.,1989
Koeberl D.D.,1990a
Thompson A.R.,1992a
Thompson A.R.,1992c
Green
P.M.,1992
Nielsen
L.N.,1992
Bottema C.D.K.,1993
Knobloch O.,1993
Poon
M.C.,1993
Tartary
M.,1993
Saad
S.,1994
8 297 AAC-AAT asn-asn Bottema
C.D.K.,1991
8 303 GGA-GTA gly-val Rowley
G.,1995
8 305 GGC-GAC gly-asp Green P.M.,1991b
8 307 GTA-GCA val-ala Bottema
C.D.K.,1989a
Thompson A.R.,1992c
Chen
S.H.,1991
8 307 GTA-GGA val-gly Green P.M.,1991b
8 308 AGT-AAT ser-asn Tartary
M.,1993
Saad
S.,1994
8 308 AGT-AGA ser-arg Giannelli F.,1996
8 308 AGT-ACT ser-arg Giannelli F.,1994
8 309 GGC-AGC gly-ser Winship
P.R.,1991
8 309 GGC-GTC gly-val Thompson A.R.,1989
8 309 GGC-GAC gly-asp Ghanem
N.,1993
Gostout
B.,1993
8 310 TGG-CGG trp-arg Giannelli F.,1996
8 310 TGG-TTG trp-leu Giannelli F.,1996
8 310 TGG-TGC trp-cys Ketterling R.P.,1993
Knobloch O.,1993
8 310 TGG-TGT trp-cys Giannelli F.,1996
8 311 GGA-AGA gly-arg Koeberl
D.D.,1989
Bottema
C.D.K.,1989a
Bottema
C.D.K.,1991b
8 311 GGA-GAA gly-glu Miyata
T.,1991
8 311 GGA-GTA gly-val Saad
S.,1994
8 313 GTC-GGC val-gly Saad
S.,1994
8 313 GTC-GAC val-asp Kuze
K.,1992
8 316 AAA-GAA lys-glu Giannelli F.,1996
8 317 GGG-CGG gly-arg Giannelli F.,1996
8 317 GGG-GAG gly-glu Saad
S.,1994
8 320 GCT-GAT ala-asp Koeberl D.D.,1990a
Saad
S.,1994
8 320 GCT-GTT ala-val Ghanem
N.,1993
8 324 CAG-GAG gln-glu Giannelli F.,1996
8 324 CAG-CCG gln-pro Lin
S.W.,1993
8 328 GTT-TTT val-phe Winship P.R.,1990
Knobloch O.,1993
8 328 GTT-ATT val-ile Poort
S.R.,1990
8 330 CTT-CCT leu-pro Saad
S.,1994
8 331 GTT-GCT val-ala Winship
P.R.,1991
8 331 GTT-GAT val-asp Giannelli F.,1996
8 332 GAC-TAC asp-tyr Knobloch O.,1993
8 333 CGA-GGA arg-gly Bottema
C.D.K.,1990c
Bottema
C.D.K.,1991b
8 333 CGA-CTA arg-leu Bottema
C.D.K.,1991a
8 333 CGA-CAA arg-gln Tsang
T.C.,1988
Poort
S.R.,1989a
Wang
N.S.,1990a
Ludwig
M.,1992a
Green
P.M.,1992a
Green P.M.,1990
Green
P.M.,1989
Chen
S.H.,1991
Thompson A.R.,1992a
Bottema
C.D.K.,1991a
Bottema C.D.K.,1993
Ghanem
N.,1993
Knobloch O.,1993
Tartary
M.,1993
Poon
M.C.,1993
David
D.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 334 GCC-ACC ala-thr Rowley
G.,1995
8 334 GCC-GAC ala-asp Chan
V.,1991
8 336 TGT-CGT cys-arg Green
P.M.,1989
Chen
S.H.,1991
Saad
S.,1994
8 336 TGT-TAT cys-tyr Green
P.M.,1991b
8 337 CTT-ATT leu-ile Fraser
B.M.,1992
8 337 CTT-TTT leu-phe Gostout
B.,1993
8 337 CTT-CCT leu-pro Giannelli F.,1996
8 338 CGA-CCA arg-pro Ketterling R.P.,1993
8 338 CGA-CAA arg-gln Zhang
M.,1989
8 340 ACA-AGA thr-arg Ketterling R.P.,1993
8 341 AAG-GAG lys-glu Heit
J.A.,1998
8 344 ATC-TTC ile-phe Giannelli F.,1996
8 344 ATC-ACC ile-thr Costa
J.M.,2000
8 347 AAC-ATC asn-ile Bottema
C.D.K.,1991a
8 348 ATG-GTG met-val Chen
S.H.,1991
8 348 ATG-AAG met-lys Giannelli F.,1996
8 348 ATG-ATA met-ile Bottema
C.D.K.,1991a
Ketterling R.P.,1993
Tartary
M.,1993
8 349 TTC-CTC phe-leu Giannelli F.,1996
8 350 TGT-TCT cys-ser Taylor
S.A.M.,1991
8 350 TGT-AGT cys-ser Giannelli F.,1994
8 350 TGT-TAT cys-tyr Saad
S.,1994
8 350 TGT-TTT cys-phe Tartary
M.,1993
8 351 GCT-CCT ala-pro Chan
V.,1998
8 352 GGC-GAC gly-asp Giannelli F.,1996
8 352 GGC-GCC gly-ala Giannelli F.,1996
8 356 GGA-AGA gly-arg Saad
S.,1994
8 359 GAT-GGT asp-gly Giannelli F.,1996
8 360 TCA-TTA ser-leu Chen
S.H.,1991
Ghanem
N.,1993
Saad
S.,1994
8 361 TGT-CGT cys-arg Giannelli F.,1996
8 361 TGT-GGT cys-gly Giannelli F.,1996
8 361 TGT-TAT cys-tyr Giannelli F.,1996
8 361 TGT-TCT cys-ser Giannelli F.,1996
8 361 TGT-AGT cys-ser Giannelli F.,1994
8 363 GGA-AGA gly-arg High
K.A.,1993
8 363 GGA-GTA gly-val Bajaj
S.P.,1990
8 363 GGA-GCA gly-ala Thompson A.R.,1992a
8 363 GGA-GAA gly-glu Saad
S.,1994
8 364 GAT-CAT asp-his Ludwig
M.,1992b
Bottema
C.D.K.,1990c
8 364 GAT-AAT asp-asn Saad
S.,1994
8 364 GAT-GTT asp-val Chen
S.H.,1991
8 364 GAT-GAC asp-asp Ludwig
M.,1992b
8 365 TA-GG ser-gly Ludwig
M.,1988
Ludwig
M.,1992b
8 365 AGT-GGT ser-gly Ludwig
M.,1992b
8 365 AGT-ATT ser-ile Ludwig
M.,1992b
8 365 AGT-AGA ser-arg Koeberl D.D.,1990a
8 365 AGT-AGG ser-arg Giannelli F.,1996
8 365 AGT-AAT ser-asn Giannelli F.,1996
8 366 GGG-GAG gly-glu Bottema
C.D.K.,1991a
Ghanem
N.,1993
8 367 GGA-AGA gly-arg Chen
S.H.,1991
Ghanem
N.,1993
8 367 GGA-GAA gly-glu Giannelli F.,1996
8 368 CCC-ACC pro-thr Bertina
R.M.,1990
Bottema
C.D.K.,1990c
8 368 CCC-CTC pro-leu Bottema
C.D.K.,1991b
Nielsen
L.N.,1992
Saad
S.,1994
8 369 CAT-AAT his-asn Giannelli F.,1996
8 369 CAT-CGT his-arg Bottema
C.D.K.,1991c
8 369 CAT-CAA his-gln Giannelli F.,1996
8 373 GTG-GAG val-glu Aguilar-Martinez P.,1994a
8 376 ACC-AAC thr-asn Green
P.M.,1991b
8 378 TTC-CTC phe-leu Chen
S.H.,1991
8 378 TTC-GTC phe-val Caglayan S.H.,1997
8 379 TTA-TTC leu-phe Tam
B.M.,1991
8 380 ACT-CCT thr-pro David
D.,1993
8 380 ACT-AGT thr-ser Chan
V.,1991
8 380 ACT-ATT thr-ile Giannelli F.,1996
8 380 ACT-AAT thr-asn Giannelli F.,1996
8 384 AGC-ATC ser-ile Giannelli F.,1996
8 385 TGG-CGG trp-arg Giannelli F.,1996
8 385 TGG-AGG trp-arg Giannelli F.,1996
8 385 TGG-TGT trp-cys Saad
S.,1994
8 386 GGT-AGT gly-ser Giannelli F.,1996
8 386 GGT-GAT gly-asp Kuze
K.,1992
8 386 GGT-GCT gly-ala Saad
S.,1994
8 386 GGT-GTT gly-val Heit
J.A.,1998
8 387 GAA-GGA glu-gly Bottema
C.D.K.,1991a
8 388 GAG-GGG glu-gly Giannelli F.,1996
8 389 TGT-GGT cys-gly Giannelli F.,1996
8 389 TGT-TAT cys-tyr Tartary
M.,1993
Saad
S.,1994
8 390 GCA-TCA ala-ser Giannelli F.,1996
8 390 GCA-ACA ala-thr Gostout
B.,1993
Tartary
M.,1993
8 390 GCA-GTA ala-val Spitzer
S.G.,1988
Tarnower A.,1991
Sugimoto M.,1988
Nishimura H.,1990
Saad
S.,1994
8 390 GCA-GAA ala-glu Wang
N.S.,1990a
Chen
S.H.,1991a
Saad
S.,1994
8 394 AAA-AAC lys-asn Giannelli F.,1996
8 395 TAT-CAT tyr-his Giannelli F.,1996
8 395 TAT-TGT tyr-cys Saad
S.,1994
8 396 GGA-CGA gly-arg Attree
O.,1989
Vidaud
M.,1988
Ghanem
N.,1993
8 396 GGA-GTA gly-val Saad
S.,1994
8 396 GGA-GCA gly-ala Giannelli F.,1994
8 397 ATA-ACA ile-thr Ware
J.,1988
Bottema
C.D.K.,1989a
Spitzer
S.G.,1990a
Bottema
C.D.K.,1990b
Geddes
V.A.,1989
Attree
O.,1989
Koeberl
D.D.,1989
Ketterling R.P.,1991b
Chen
S.H.,1991
Thompson A.R.,1990
Thompson A.R.,1992a
Poon
M.C.,1993
Sarkar
G.,1991
8 398 TAT-TCT tyr-ser Saad
S.,1994
8 399 ACC-ATC thr-ile Giannelli F.,1996
8 402 TCC-TTC ser-phe Koeberl D.D.,1990a
8 403 CGG-TGG arg-trp Giannelli F.,1996
8 403 CGG-CAG arg-gln Poon
M.C.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 404 TAT-CAT tyr-his Giannelli F.,1996
8 404 TAT-TGT tyr-cys Giannelli F.,1996
8 405 GTC-TTC val-phe Thompson A.R.,1992a
8 407 TGG-CGG trp-arg Koeberl
D.D.,1989
Bottema
C.D.K.,1989a
Bottema
C.D.K.,1991a
Ketterling R.P.,1993
8 408 ATT-ACT ile-thr Giannelli F.,1994
8 412 ACA-AAA thr-lys Bottema
C.D.K.,1991a
Ketterling R.P.,1993
-------------------------------------------------------------------------
nonsense мутации
-------------------------------------------------------------------------
Экзон :Кодон:Замена нук-:Замена амино-: Литература
: : леотидов : кислот :
-------------------------------------------------------------------------
2 11 CAA-TAA gln-ter Winship
P.R.,1991
2 26 GAA-TAA glu-ter Giannelli F.,1994
2 29 CGA-TGA arg-ter Green
P.M.,1989
Montandon A.J.,1989
Green P.M.,1990
Green
P.M.,1991b Green P.M.,1991
Koeberl
D.D.,1990 Koeberl D.D.,1990b
Lin
S.W.,1991
Thompson A.R.,1992
Green
P.M.,1992
Knobloch O.,1993
Bottema C.D.K.,1993
Gostout
B.,1993
Tartary
M.,1993
Saad
S.,1994
2 30 GAA-TAA glu-ter Giannelli F.,1996
2 33 GAA-TAA glu-ter Haris
I.I.,1994
3 42 TGG-TAG trp-ter Saad
S.,1994
3 44 CAG-TAG gln-ter Giannelli F.,1996
4 50 CAG-TAG gln-ter Ghanem
N.,1993
4 52 GAG-TAG glu-ter Bottema
C.D.K.,1991a
Knobloch O.,1993
4 71 TGT-TGA cys-ter Saad
S.,1994
4 72 TGG-TGA trp-ter Ghanem
N.,1993
4 73 TGT-TGA cys-ter Ghanem
N.,1993
5 95 TGC-TGA cys-ter Tam
B.M.,1991
Ketterling R.P.,1993
Saad
S.,1994
5 116 CGA-TGA arg-ter Montandon A.J.,1990a
Bottema
C.D.K.,1991b
Nielsen
L.N.,1992
Lin
S.W.,1993
Saad
S.,1994
6 145 TAT-TAG tyr-ter Thompson A.R.,1994
6 155 TAT-TAG tyr-ter Thompson A.R.,1994
6 162 GAA-TAA glu-ter Giannelli F.,1996
6 173 CAA-TAA gln-ter Giannelli F.,1994
6 191 CAA-TAA gln-ter Matsushita T.,1990
Aquilar-Martinez P.,1994b
6 194 TGG-TAG trp-ter Green
P.M.,1989
Green
P.M.,1991b Green P.M.,1991
Gostout
B.,1993
Saad
S.,1994
6 194 TGG-TGA trp-ter Saad
S.,1994
6 195 CAG-TAG gln-ter Thompson A.R.,1992b
7 207 GGA-TGA gly-ter Thompson A.R.,1992b
7 213 GAA-TAA glu-ter Giannelli F.,1996
7 215 TGG-TAG trp-ter Chen
S.H.,1991 Chen S.H.,1991a
7 224 GAA-TAA glu-ter Giannelli F.,1996
8 248 CGA-TGA arg-ter Green
P.M.,1989
Green P.M.,1990
Green
P.M.,1991b Green P.M.,1991
Green
P.M.,1992a Green P.M.,1992
Wang
N.S.,1990a
Koeberl D.D.,1990a
Tarnover A.,1991
Bottema
C.D.K.,1991b
Bottema C.D.K.,1993
Gostout
B.,1993
Poon
M.C.,1993
Tartary
M.,1993
Saad
S.,1994
8 252 CGA-TGA arg-ter Siguret
V.,1988
Green
P.M.,1991b Green P.M.,1991
Chen
S.H.,1989a
Taylor
S.A.M.,1990
Poon
M.C.,1987
Bottema
C.D.K.,1991a
Green
P.M.,1992a Green P.M.,1992
Figueiredo M.S.,1993
Ghanem
N.,1993
Ketterling R.P.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 266 TAC-TAG tyr-ter Giannelli F.,1996
8 284 TAC-TAA tyr-ter Ketterling R.P.,1993
Tartary
M.,1993
8 294 GAA-TAA glu-ter Bottema
C.D.K.,1991a
Chen
S.H.,1991 Chen S.H.,1991a
Ketterling R.P.,1993
8 295 TAC-TAA tyr-ter Giannelli F.,1996
8 306 TAT-TAA tyr-ter Thompson A.R.,1991
8 306 TAT-TAG tyr-ter Giannelli F.,1996
8 310 TGG-TAG trp-ter Tarnover A.,1991
Wang
N.S.,1990a
Tartary
M.,1993
8 324 CAG-TAG gln-ter Bottema
C.D.K.,1991a
8 325 TAC-TAG tyr-ter Bottema
C.D.K.,1991a
8 325 TAC-TAA tyr-ter Gostout
B.,1993
8 333 CGA-TGA arg-ter Koeberl
D.D.,1990b
Montandon A.J.,1990b
Thompson A.R.,1992
Chen
S.H.,1991 Chen S.H.,1991a
Bottema
C.D.K.,1991a
David
D.,1993
Knobloch O.,1993
Lin
S.W.,1993
Ghanem
N.,1993
Gostout
B.,1993
Gostout
B.,1993
Saad
S.,1994
8 336 TGT-TGA cys-ter Giannelli F.,1996
8 338 CGA-TGA arg-ter Ludwig
M.,1989
Driscoll M.C.,1989a Driscoll M.C.,1989
Green P.M.,1990
Poon
M.C.,1987
Poon
M.C.,1993
Freedenberg D.L.,1989
Tam
B.M.,1991
Gostout
B.,1993
Tartary
M.,1993
Aquilar-Martinez P.,1994b
8 345 TAT-TAA tyr-ter Giannelli F.,1994
8 360 TCA-TGA ser-ter Ghanem
N.,1993
8 363 GGA-TGA gly-ter Saad
S.,1994
8 374 GAA-TAA glu-ter Saad
S.,1994
8 379 TTA-TGA leu-ter Knobloch O.,1993
8 385 TGG-TAG trp-ter Giannelli F.,1996
8 388 GAG-TAG glu-ter Giannelli F.,1996
8 407 TGG-TAG trp-ter Saad
S.,1994
8 411 AAA-TAA lys-ter Giannelli F.,1994
-------------------------------------------------------------------------
silent мутации
-------------------------------------------------------------------------
Экзон :Кодон:Замена нук-:Замена амино-: Литература
: : леотидов : кислот :
-------------------------------------------------------------------------
5 107 GTT-GTA val-val Green
P.M.,1991b Green P.M.,1991
5 116 CGA-AGA arg-arg Saad
S.,1994
6 191 CAA-CAG gln-gln Thompson
A.R.,1992
7 227 GTT-GTC val-val Koeberl
D.D.,1989
Chen
S.H.,1991 Chen S.H.,1991a
8 364 GAT-GAC asp-asp Ludwig
M.,1992b
-------------------------------------------------------------------------
