Табл. DMD m
Идентифицированные мутации в гене дистрофина (DMD) человека
3) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
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54 CTC-CGC Leu-Arg Prior
T.W.,1993a
168 GCT-GAT Ala-Asp Roberts R.G.,1994
231 TAC-AAC Tyr-Asn Roberts R.G.,1994
279 ACG-GCG Thr-Ala Ortiz-Lopez R.,1997
645 GAT-GGT Asp-Gly Prior
T.W.,1994b
773 AAG-GAG Lys-Glu Roberts R.G.,1994
2155 CGG-TGG Arg-Trp Kneppers A.L.,1995
2910 GAG-GTG Glu-Val Roberts R.G.,1994
2912 AAT-GAT Asn-Asp Roberts R.G.,1994
2921 CAC-CGC His-Arg Roberts R.G.,1994
3340 TGC-TAC Cys-Tyr Lenk
U.,1996
3421 GCG-GTG Ala-Val Roberts R.G.,1994
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4) nonsense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
-----------------------------------------------------------------------
60 CAA-TAA Gln-Ter Roberts R.G.,1994
67 GGA-TGA Gly-Ter Sitnik
R.,1997
85 CAG-TAG Gln-Ter Roberts R.G.,1994
105 AAA-TAA Lys-Ter Nigro
V.,1994
145 CGA-TGA Arg-Ter Roberts R.G.,1994
242 CAA-TAA Gln-Ter Nigro
V.,1992
250 GAA-TAA Glu-Ter Roberts R.G.,1994
354 TGG-TAG Trp-Ter Nigro
V.,1994
480 GGA-TGA Gly-Ter Roberts R.G.,1994
491 CAA-TAA Gln-Ter Kneppers A.L.,1995
497 CAA-TAA Gln-Ter Roberts R.G.,1994
522 GGA-TGA Gly-Ter Prior
T.W.,1994a
622 TCA-TGA Ser-Ter Nigro
V.,1994
651 TGG-TAG Trp-Ter Roberts R.G.,1994
673 CAG-TAG Gln-Ter Barbieri A.M.,1995
768 CGA-TGA Arg-Ter Prior
T.W.,1993b
770 AAA-TAA Lys-Ter Roberts R.G.,1994
772 GAG-TAG Glu-Ter Prior
T.W.,1993b
825 TGG-TGA Trp-Ter Prior
T.W.,1995
838 CAG-TAG Gln-Ter Prior
T.W.,1995
931 GAG-TAG Glu-Ter Roberts R.G.,1992
993 CAA-TAA Gln-Ter Roberts R.G.,1994
1041 CAA-TAA Gln-Ter Roberts R.G.,1994
1063 TGG-TAG Trp-Ter Roberts R.G.,1994
1087 CAG-TAG Gln-Ter Nigro
V.,1994
1102 CAG-TAG Gln-Ter Barbieri A.M.,1996
1157 GAG-TAG Glu-Ter Bulman
D.E.,1991
1405 CAA-TAA Gln-Ter Roberts R.G.,1994
1459 CGA-TGA Arg-Ter Prior
T.W.,1995
1472 CAA-TAA Gln-Ter Roberts R.G.,1994
1642 TTG-TAG Leu-Ter Prior
T.W.,1995
1851 CAG-TAG Gln-Ter Roberts R.G.,1992
1967 CGA-TGA Arg-Ter Saad
F.A.,1993
2098 CGA-TGA Arg-Ter Roberts R.G.,1994
2125 CAG-TAG Gln-Ter Roberts R.G.,1994
2182 CAG-TAG Gln-Ter Prior
T.W.,1993c
2264 CAG-TAG Gln-Ter Roberts R.G.,1994
2319 CAA-TAA Gln-Ter Roberts R.G.,1994
2757 GAA-TAA Glu-Ter Prior
T.W.,1995
2815 CAG-TAG Gln-Ter Prior
T.W.,1995
2905 CGA-TGA Arg-Ter Prior
T.W.,1995
2972 CAA-TAA Gln-Ter Tuffery S.,1996
2982 CGA-TGA Arg-Ter Roberts R.G.,1992
3024 TGG-TGA Trp-Ter Prior
T.W.,1995
3066 TCG-TAG Ser-Ter Roberts R.G.,1994
3190 CGA-TGA Arg-Ter Tuffery S.,1998
3370 CGA-TGA Arg-Ter Roberts R.G.,1992
3381 CGA-TGA Arg-Ter Lenk
U.,1993
3391 CGA-TGA Arg-Ter Barbieri A.M.,1996
3493 CAG-TAG Gln-Ter Barbieri A.M.,1996
3635 CAA-TAA Gln-Ter Prior
T.W.,1995
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