Табл. Hb B m
Идентифицированные мутации в гене бета глобина (HBB) человека
1) missense мутации
------------------------------------------------------------------------
Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
1 ATG-AAG Met-Lys Waye
J.S.,1997
1 ATG-ACG Met-Thr Jankovich
L.,1990
1 ATG-AGG Met-Arg Lam.,1990
1 ATG-ATA Met-Ile Saba
L.,1992
1 ATG-ATT Met-Ile Rahbar S.,1993
1 ATG-GTG Met-Val Hattori
Y.,1991
2 GTG-GCG Val-Ala Landin
B.,1993a
3 CAC-CCC His-Pro Prchal
J.T.,1986
3 CAC-CTG His-His Wood
N.,1995
4 ACT-ACA Thr-Thr Agarwal
S.,1997
6 CCT-TCT Pro-Ser Langdown
J.V.,1994
Agarwal
S.,1997
7 GAG-GTG Glu-Val Engelke
D.R.,1988
7 GAG-AAG Glu-Lys Siriboon.,1993
10 TCT-TGT Ser-Cys Goncalves.,1994
12 GTT-ATT Val-Ile Manka
L.,1992
19 GTG-GGG Val-Gly Pobedimska
D.D.,1993
20 AAC-AGC Asn-Ser Yang
K.G.,1989
21 GTG-GAG Val-Glu Landin
B.,1994
22 GAT-AAT Asp-Asn Aguilar.,1993
22 GAT-CAT Asp-His Landin
B.,1993b
23 GAA-GCA Glu-Ala El-Hashemite
N.,1997
27 GAG-AAG Glu-Lys Orkin
S.H.,1982a
28 GCC-GAC Ala-Asp Plaseska
D.,1993
28 GCC-TCC Ala-Ser Orkin
S.H.,1984b
29 CTG-CGG Leu-Arg Thein
S.L.,1991
31 AGG-ACG Arg-Thr Banerjee.,1993
31 AGG-AGT Arg-Ser Landin
B.,1993a
32 CTG-CCG Leu-Pro Plaseska
D.,1991a
32 CTG-CGG Leu-Arg Gurgey
A.,1995
33 CTG-CAG Leu-Gln Coleman
M.B.,1995
44 GAG-CAG Glu-Gln Plaseska
D.,1991b
46 TTT-TGT Phe-Cys Vassilopoulos
G.,1995
57 GGC-GAC Gly-Asp Liu
J.S.,1992a
61 GTG-GAG Val-Glu Baysal.,1995
64 CAT-CGT His-Arg Miranda
S.R.P.,1994
64 CAT-TAT His-Tyr Waye
J.S.,1994a
68 GTG-ATG Val-Met Molchanova
T.P.,1993a
69 CTC-CCC Leu-Pro Keeling
M.M.,1991
73 AGT-AGA Ser-Arg Rochette
J.,1993
75 GGC-GTC Gly-Val Srivastava.,1995
78 CAC-TAC His-Tyr Landin
B.,1993a
80 GAC-CAC Asp-His Molchanova
T.P.,1993b
84 GGC-GAC Gly-Asp Qin
W.B.,1994a
89 CTG-CCG Leu-Pro Goncalves.,1994
91 GAG-AAG Glu-Lys Paleari.,1994
92 CTG-CCG Leu-Pro Gasperini
D.,1992
92 CTG-CGG Leu-Arg Waye
J.S.,1995a
93 CAC-AAC His-Asn Harano
T.,1991a
93 CAC-TAC His-Tyr Molchanova
T.P.,1992
97 CTG-CCG Leu-Pro Lacan
P.,1996
98 CAC-CAA His-Gln Landin
B.,1996
98 CAC-CAG His-Gln Landin
B.,1996
99 GTG-ATG Val-Met Coleman
M.B.,1995
105 AGG-ACG Arg-Thr Liu
J.S.,1992b
107 CTG-CAG Leu-Gln Philippe
M.,1993
109 AAC-AAG Asn-Lys Schnee
J.,1990
110 GTG-ATG Val-Met Coleman
M.B.,1995
111 CTG-CCG Leu-Pro Kobayashi
Y.,1987
112 GTC-CTC Val-Leu Qin
W.B.,1994b
113 TGT-TAT Cys-Tyr Harano
T.,1991b
114 GTG-GAG Val-Glu Liu
J.S.,1992a
115 CTG-CCG Leu-Pro Murru
S.,1992
116 GCC-GAC Ala-Asp Divoky
V.,1993c
120 GGC-GAC Gly-Asp Qin
W.B.,1994b
122 GAA-GTA Glu-Val Akar
N.,1995
122 GAA-AAA Glu-Lys Lacerra
G.,1993
122 GAA-CAA Glu-Gln Schnee
J.,1990
127 GTG-GGG Val-Gly Pagano
L.,1991
128 CAG-CCG Gln-Pro Baysal.,1995
128 CAG-CGG Gln-Arg Girodon
E.,1992
129 GCT-GAT Ala-Asp Yamagishi
Y.,1993
132 CAG-AAG Gln-Lys Churuk.,1992
133 AAA-AAC Lys-Asn Harano
T.,1990
136 GCT-CCT Ala-Pro Landin
B.,1993c
139 GCT-CCT Ala-Pro Negri-Arjona
S.,1992
141 GCC-GTC Ala-Val Wajcman
H.,1995
146 TAT-AAT Tyr-Asn Hutt
P.J.,1996
147 CAC-CAA His-Gln Harano
T.,1992
-------------------------------------------------------------------------
2) nonsense мутации
------------------------------------------------------------------------
Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
6 GAG-TAG Glu-Ter Agarwal
S.,1997
16 TGG-TAG Trp-Ter Kazazian
H.H.,1984
16 TGG-TGA Trp-Ter Aelehla.,1990
18 AAG-TAG Lys-Ter Chang
J.C.,1983
23 GAA-TAA Glu-Ter Ghanem
N.,1992
27 GAG-TAG Glu-Ter Baysal.,1995
36 TAC-TAA Tyr-Ter Thein
S.L.,1990
37 TGG-TGA Trp-Ter Boehm
C.D.,1986
38 TGG-TAG Trp-Ter Xu.,1995
38 TGG-TGA Trp-Ter Boehm
C.D.,1986
40 CAG-TAG Gln-Ter Trecartin
R.F.,1981
44 GAG-TAG Glu-Ter Atwen
G.F.,1988
62 AAG-TAG Lys-Ter Gonzales-Redondo J.M.,1988
91 GAG-TAG Glu-Ter Fucharoen
S.,1990
113 TGT-TGA Cys-Ter Divoky
V.,1993a
122 GAA-TAA Glu-Ter Kazazian
H.H.,1986
128 CAG-TAG Gln-Ter Hall
G.W.,1991
------------------------------------------------------------------------
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